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Maciamo
26-11-07, 11:45
Genetic diseases are obviously caused by our genes. The progress in the field of genetics is constantly giving us new clues regarding the correlations between certain genetic types and a risk to develop some diseases.

Mitochondrial DNA (mtDNA) only represents a tiny fraction of a person's DNA. However, it plays an important role in the energy production within cells, and are hence referred to as the "powerhouses" of the cell. About 2 billion mitochondria are made every second throughout a person’s life, each having an average life of around 100 days.

MtDNA is exclusively inherited through the mother, and remains unchanged for many generations. Mutations occur randomly after anything between 10 and 50 generations. This makes it possible to classify human beings into haplogroups (http://en.wikipedia.org/wiki/Haplogroup) sharing a same number of mutations. Each individual thus belongs to a definite mtDNA haplogroup. Haplogroups can be further divided into more precise subclades, sharing more mutations and therefore a more recent common ancestor than with the whole haplogroup.

MtDNA subclades are mostly determined by mutations in the coding region of the DNA (i.e. having medical functions). Consequently, it is possible that one or several mutations found in a particular haplogroup or subclade have a positive or negative effect on health. For instance, one's haplogroup can influence cancer risk either protectively or detrimentally (see examples below).

The Mitomap (http://www.mitomap.org/MITOMAP) website has a list of mtDNA mutations in associated with diseases. They can be sorted by Coding & Control Region mutations and rRNA/tRNA mutations.

These mutations are not revealed by the common HVR1 and HVR2 tests for genealogical purposes, but require to test the full mtDNA sequence.

Mitochondrial diseases are most often associated with energy-related conditions, such as myopathy (http://en.wikipedia.org/wiki/Mitochondrial_myopathies) (neuromuscular disease, leading to muscle paralysis) and cardiomyopathy (http://en.wikipedia.org/wiki/Cardiomyopathy) (heart muscle disease), single nerve paralysis (notably the optical nerve), exercise intolerance (http://en.wikipedia.org/wiki/Exercise_intolerance), but also more benign symptoms like fatigue, overall weakness, headaches, or loss of appetite.

Other medical conditions related to mtDNA include osteoporosis, Alzheimer's disease, Parkinsons's disease, etc.

Examples of diseases associated with a haplogroup

Among European populations

The risks of developing Parkinson Disease have been found to be higher among mtDNA haplogroups H, but lower for haplogroups J and K.

Men belonging to haplogroup H have the lowest risk of asthenozoospermia (reduced sperm motility), while those of hpg T have the highest.

There is a correlation between haplogroup H and protection from sepsis.

Haplogroups I, J1c, J2, K1a, U4, U5a1 and T have lower incidences of Parkison's Disease. I, J and T also have increased longevity. However, haplogroups J and T have been associated with increased risk for expression of a maternally inherited blindness disorder (Leber hereditary optic neuropathy). This is especially true for the J2 subclade.

Haplogroup T is associated with coronary heart disease, but also a decreased risk of diabetes (source 1 (http://dienekes.blogspot.com/2009/04/mtdna-haplogroup-t-and-coronary-artery.html), source 2 (http://www.sciencedirect.com/science?_ob=ArticleURL&_udi=B6W8G-4R34F33-12&_user=10&_rdoc=1&_fmt=&_orig=search&_sort=d&view=c&_acct=C000050221&_version=1&_urlVersion=0&_userid=10&md5=53281bf2fe3b25d86ec242be7e5dcf87), source 3 (http://mathildasanthropologyblog.wordpress.com/2008/09/06/mitochondrial-dna-haplotype-t-carriers-are-less-prone-to-diabetes/)).

Haplogroup N is considered a risk factor for breast cancer. This also applies to all its sub-haplogroups (H, T, U, V, W, X) except for hpg K.

Mitochondrial haplogroup U is associated with an approximately 2-fold increased risk of prostate cancer and renal cancer.

Coskun et al. (http://www.pnas.org/content/101/29/10726.full?sid=e30c6fc2-d527-42c9-8a71-4de1dbf14937) says that haplogroups J and UK are protective against Alzheimer's disease (AD), whereas haplogroup H is thought to increase the penetrance of AD. One of the mutations found in AD patient but not in controls was T414G.

Haplogroup U and its subclade K are associated with higher risks of strokes and Chronic Progressive External Ophthalmoplegia.

Haplogroup X has a defining mutation related to type-2 diabetes, cardiomyopathy and endometrial cancer risk.

Studies have suggested haplogroup IWX to be highly protective against AIDS progression.

The A10398G! (back mutation from macrohaplogroup N) has been associated with longevity, protection against PD, altered cell pH, metabolic syndrome, and increased risk of breast cancer. It is found in haplogroups J (except J1c8), K1, K2a11, N1a1 (including hg I), N8, W1e1a and W3a1d.


Among East Asian populations

Longevity is associated with haplogroup D. The mutations involved are C5178a (defining haplogroup D) and C8414T (defining D4/D1).

Haplogroups D4a and D5a are associated with higher risk of esophageal cancer.

Haplogroups F and A are genetic risk factors for diabetes, whereas haplogroup N9a was found to be a protective factor against Metabolic syndrome (cause of cardiovascular disease and diabetes), especially for women.

Haplogroup M7b2 was found to be a genetic risk factor for leukemia.

People belonging to haplogroups B4c, G1 and H4 are more predisposed to obesity.

Members of haplogroup G (found in North-East Siberia) have increased risks of Non-Insulin Dependent Diabetes Mellitus.

Such studies are still in their infancy. The years, and indeed decades to come will shed more light on the relation between diseases and genes. What is more, the results of these studies are not easily accessible to the general public, or are often too technical to be easily understood for lay people. But if you find some interesting data, feel free to post it here as a summary of the information jungle in which we live.

Maciamo
18-09-08, 13:26
Two of the most common pathogenic mitochondrial mutations are A3243G and T14484C. (sources (http://dienekes.blogspot.com/2008/08/pathogenic-mtdna-is-common.html)). The former is responsible for Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes, and the latter for Leber Hereditary Optic Neuropathy.

Both are found in specific subclades of haplogroup J or independently in various haplogroups, notably H and T.

Maciamo
16-10-08, 18:39
A new study contradicts the claim that haplogroup J is associated with centenarians (http://dienekes.blogspot.com/2008/10/mtdna-haplogroup-j-not-associated-with.html). Among Ashkenazi Jews, there does not seem to be a significant difference between mtDNA haplogroups in centenarians and in the control group.

Maciamo
14-11-08, 20:27
A new article (http://dienekes.blogspot.com/2008/11/mtdna-haplogroups-and-aids-progression.html) on Dienekes' Blog mentions that AIDS progression is faster amongst haplogroups J and U5a, but slower for members of haplogroups UK, H3, and IWX. UK supposedly means all subclades of U and K, and IWX means hg I, W and X. This is contradictory though since U5a is associated with faster progression.

Maciamo
13-01-09, 17:30
Mitochondrial DNA is a cause of acute intermittent porphyria (http://www.nature.com/ejhg/journal/v12/n7/full/5201151a.html). The disease has been linked with mtDNA 14484 mutation found in Dutch members of haplogroups J and K.

Maciamo
19-03-09, 11:49
Mitochondrial Variants in Schizophrenia, Bipolar Disorder, and Major Depressive Disorder (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2654519/pdf/pone.0004913.pdf)


Mitochondria provide most of the energy for brain cells by the process of oxidative phosphorylation. Mitochondrial abnormalities and deficiencies in oxidative phosphorylation have been reported in individuals with schizophrenia (SZ), bipolar disorder (BD), and major depressive disorder (MDD) in transcriptomic, proteomic, and metabolomic studies. Several mutations in mitochondrial DNA (mtDNA) sequence have been reported in SZ and BD patients.

This study examines the association between brain pH and mtDNA alleles. The stronger association (highest pH) was found for haplogroups U and K. The A10398G polymorphism (defining hg I, J and K1) was found to be associated with an increased pH in cybrid cells.

Higher pH confers a protective effect of the haplogroup U, K, J and T against Parkinson's disease and psychiatric disorders.

Other studies (http://www.medicalnewstoday.com/articles/43489.php) suggested that a lower brain acidity (i.e. higher pH) has a protective effect against strokes.

Research on intelligence point that people with higher IQ tend to have more alkaline brains. Higher pH is associated with better conductivity-transmission between neurons (source (http://books.google.be/books?id=r3Gt9MKiNVoC&hl=en)).

On the other hand, the study found a tendency towards association of psychiatric disorders with H haplogroups (meaning lower pH).

The most significant mutation associated with schizophrenia and depression is T10652C, found primarily in haplogroups pre-HV, N1b1 and D1. Three other mutations were typically present along with T10652C in affected individuals : T14783C, G15043A, and T9540C. The G15043A mutation is found in haplogroups N1a1 (which includes the whole haplogroup I), J1c2a3, T2f1a, U2c1a, U6a7.

Maciamo
03-04-09, 21:28
Haplogroup H is strongly associated with increased lipoatrophy (http://dienekes.blogspot.com/2009/04/mitochondrial-dna-haplogroups-and.html) following a antiretroviral therapy, while haplogroup T is somewhat protective.

Maciamo
03-07-09, 10:39
According to Petros et al. (http://www.pnas.org/content/102/3/719.abstract) mtdna mutation T8993T is associated with a 7-fold increased risk for prostate cancer. This mutation does not define any haplogroup or common subclade.

Coskun et al. (http://www.pnas.org/content/100/5/2174.full?ijkey=bd088cb54aece6ec2f0ca215a06c12396a f0f9fb&keytype2=tf_ipsecsha) found the C150T mutation to be associated with centenarians (longevity) and resistance to stress. C150T is found in various haplogroups. The study found cases in the European haplogroups N1b, HV, H, J, T and U.

C150T defines haplogroups HV1a1, HV12b, H1e1a6, H1o, H1as1, H1av1, H6a1a7, I5a3, J1b7, J1c1c, K1a11, K3, R1b, T2b9, T2c1c1, T2e, U3, U5a1h, U5b, U6a3f, U6a4, U6a7a1b, U6c, V19, V22 and W5a2.

Among non European or Mediterranean haplogroups C150T is also found in haplogroups B4c1b, B4c1c, B6 F1a3a2, F1e3, F3b1, N9a, N10b, N11b, N21, N22, R0a4, R8b2.

Maciamo
13-11-09, 11:17
A new Spanish study (http://dienekes.blogspot.com/2009/11/mtdna-haplogroup-h-and-maximal-oxygen.html) found that haplogroup H was associated with a higher oxygen uptake compared to average. Haplogroup J, on the other hand, had the opposite association.

^ lynx ^
29-12-09, 21:17
A new Spanish study (http://dienekes.blogspot.com/2009/11/mtdna-haplogroup-h-and-maximal-oxygen.html) found that haplogroup H was associated with a higher oxygen uptake compared to average. Haplogroup J, on the other hand, had the opposite association.

So this study somehow confirms that J have increased longevity.

Carlos
17-01-12, 01:17
I like these results, J mtcdna balances and protects me from many evils.

Mihajlo
05-03-12, 07:29
I have read That mtdna K can be protective against AIDS, but it's increase strokes, that's not a good news to me.

Twilight
01-02-13, 20:42
Okay, so my direct maternal Ancestors were british and all with depression 5 generations before me so that make me either mtdna H or V. Now the interesting thing is that my growth pattern seems to have origionated on my direct maternal ancestors side as well because at 13 we would usually grow a foot and then stop growing, are there any haplogroups or subclades that this insane fanally growthspurt? Thank you so much ^_^

Maciamo
19-03-14, 15:41
The common T16189C polymorphism lowers the rate of mtDNA replication and consequently the number of mtDNA copies, reducing metabolic efficiency. It has been linked to maternally inherited thinness (Parker 2005 (http://ajpendo.physiology.org/content/289/6/E1110)), thinness at birth (Soini 2012 (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3434112/)) and increased body
mass index (Liou 2007 (http://press.endocrine.org/doi/abs/10.1210/jc.2006-0653?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%3dpubmed&)), and increased frequency of type 2 diabetes in the UK (Poulton 2002 (http://hmg.oxfordjournals.org/content/11/13/1581.full)) and in Asia (Weng 2005 (http://press.endocrine.org/doi/abs/10.1210/jc.2005-0227?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%3dpubmed) and Park 2008 (http://link.springer.com/article/10.1007%2Fs00125-008-0933-z)).

This mutation defines haplogroups H1a6, H1b, H1f, H1g, H1j9, H1k, H1y, H1z, H1aa, H1ab, H1ac, H1ad, H1ap1, H1cc, H1c3b, H2a2a1g, H3av, H96, HV1b2, I1a1d, J1c8a1a, K1a2a1, K1b1a1b, K2a8, N1a1a1a1a, U1a, U2d, U2e, U3a3, U4d2, U5a1d2a, U5b1b, U5b2a, U5b2b4, U6a1a, U6a2, U6a3, U6a6a, U6a7c, U6a8, U6b1b, U6c, U8a1a4, U8b1, U8c, and X, among others.

Soini 2012 (http://www.biomedcentral.com/1756-0500/5/350/) suggest thatT16189C is only a risk factor for diabetes when accompanied by the G3010A polymorphism.

Other mtDNA polymorphisms possibly associated with maternally inherited diabetes mellitus include (those in bold have over 90% probability of being damaging):

- T593C
- A3243G
- G4659A (also linked to Parkinson’s disease)
- G6480A (also linked to linked to prostate cancer)
- C6489A (also linked to to epilepsia partialis continua)
- A8344G
- T9316C
- T9903C
- C11266T
- G12613A
- T13762G
- C13948T (defining haplogroup R1a)
- T14180C (defining haplogroup T2b26)
- G14198A (defining haplogroup U5a2a1e)
- C15904T
- A15907G
- A15924G
- G15928A

Haplogroup V, and especially V8, has been found to be more common among patients with maternally inherited diabetes in Finland.

Achilli et al. 2011 (http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0021029) also reported that Haplogroup V increased the risk of renal failure in patients with type 2 diabetes, while haplogroup cluster HV has been associated with retinopathy in these patients.

LadyAlaise
26-04-14, 06:10
Okay, so my direct maternal Ancestors were british and all with depression 5 generations before me so that make me either mtdna H or V. Now the interesting thing is that my growth pattern seems to have origionated on my direct maternal ancestors side as well because at 13 we would usually grow a foot and then stop growing, are there any haplogroups or subclades that this insane fanally growthspurt? Thank you so much ^_^

Twilight; not sure if it applies to mtdna haplogroups or not; but it would be interesting to see?
All of my siblings and I all had a final growth spurt in our early to mid 20s.
between the ages of 23 and 26 I grew two inches (went from just under 5'3 to just under/abt 5'5). One of my brothers went off to the Navy at about 5'8 and came home from service some years later at 6'1.

mr_y82
26-03-16, 23:50
More amazing work Maciamo! Is the below info specific to T2f1a (and the others listed), or would T2f1 potentially be included (I assume not since T2f1a is "downstream" from T2f1)? Please forgive if my question shows a marked lack of understanding genetics... still learning (and always will be)!




The most significant mutation associated with schizophrenia and depression is T10652C, found primarily in haplogroups pre-HV, N1b1 and D1. Three other mutations were typically present along with T10652C in affected individuals : T14783C, G15043A, and T9540C. The G15043A mutation is found in haplogroups N1a1 (which includes the whole haplogroup I), J1c2a3, T2f1a, U2c1a, U6a7.

Maciamo
08-11-16, 09:19
A study on Finnish endurance athletes (Niemi and Majamaa (2005) (http://www.nature.com/ejhg/journal/v13/n8/full/5201438a.html)) showed that the frequencies of mtDNA haplogroups differed significantly between sprint and endurance athletes. Most notably, none of the endurance athletes belonged to haplogroup K or subhaplogroup J2, both of which have previously been associated with longevity.


Most notably, the frequencies of haplogroups J and K were higher among the sprinters. Only one endurance athlete belonged to haplogroup J (1.9%), whereas the frequency of this haplogroup among the sprinters was 6.7%. Two of the sprinters belonged to subhaplogroup J2, while the remaining four sprinters and the endurance athlete belonged to subhaplogroup J1. None of the endurance athletes belonged to haplogroup K, whereas the frequency of this haplogroup among the sprinters was 9.0%. In addition, four endurance athletes (6.6%) belonged to haplogroup I, but none of the sprinters. The frequencies of mtDNA haplogroup clusters (HV, KU, IWX, JT) did not differ significantly between the groups. None of the Finnish athletes harboured 8794C>T in MTATP6.


A similar study (Maruszak 2014 (https://www.ncbi.nlm.nih.gov/pubmed/23163620)) analysed the mtDNA of 395 elite Polish athletes (213 endurance athletes and 182 power athletes) and 413 sedentary controls and found that mtDNA haplogroup H and HV cluster influence endurance performance at the Olympic/World Class level of performance (P = 0.018 and P = 0.0185, respectively).

Based on the percentages in the elite vs sedentary groups in the supplementary data, it appears that haplogroups I, K, V and W are less common among athletes, while HV, H, R0, U and X are more common. If we break down the results between endurance athletes vs power athletes, haplogroups H and X displays an overwhelming association with endurance types. Haplogroup H represented 50% of endurance athletes vs 42.78% for power athletes and 44.75% in sedentary controls, while haplogroup X was found in 1.9% of endurance types vs 1.1% of power types and 1.2% of controls. R0/HV and W are the most overrepresented among power athletes. R0/HV scored 2.7% for power vs 1.8% for endurance. Haplogroup W was found in 4.4% of power types vs only 1.4% of endurance types, with controls in the middle at 3.5%. Haplogroup U was slightly more common among power athletes (21.7%) than endurance ones (19%), but considerably more than in controls (17.5%).

This study did not find any difference in frequency between athletes and controls for haplogroups N1/I, J and T, although some subclades contain mutations associated with greater athletic performance. Haplogroup K was the only one that was much less common among athletes (3%) than sedentary controls (6%).

The authors reported that two mtDNA mutations were associated with achieving the elite performance level either in the total athlete's group as compared with controls (m.16362C, 3.8% vs 9.2%, respectively, P = 0.0025, odds ratio = 0.39, 95% confidence interval: 0.21-0.72), or in the endurance athletes as compared with controls (m.16080G, 2.35% vs 0%, respectively, P = 0.004).

- 16362C defines haplogroups I1c, J1c2j, J2b1a1a, K1a1c, K1a5a, K1d, K1e, K1f, HV1d, H1b1 (subclades a, b, c, d and h only), H1c3b, H1bv1, H3ak, H6, H8, H13b, H20a1a, R0a'b, T1a13, T2b16, T2i, U1a1d, U2e, U3b2b, U4a2c1, U4a3, U4b1a1a1, U5a1a1c, U5a1b3, U5a1b4, U5a2e, U5b2b1a, U6a3e, V19 and W5a.

- 16080G defines haplogroup H1b2 only.


Eynon et al. 2011 (http://physiolgenomics.physiology.org/content/43/13/789) reviewed the association between certain mtDNA lineages and aerobic performance, characterized by maximal oxygen uptake (V̇o2max). Here is a summary.

Castro et al. (2007) (https://www.ncbi.nlm.nih.gov/pubmed/17660050?access_num=17660050&link_type=MED&dopt=Abstract) found that mtDNA haplogroup T is negatively associated with elite endurance athletic status.

Marcuello et al. (2008 (https://www.ncbi.nlm.nih.gov/pubmed/18952007?access_num=18952007&link_type=MED&dopt=Abstract)) found that haplogroup J was related with a lower efficiency of electron transport chain (ETC), diminished ATP and ROS production, and lower V̇o2max.

Martínez-Redondo et al. (2010) (https://www.ncbi.nlm.nih.gov/pubmed/19900587?access_num=19900587&link_type=MED&dopt=Abstract) confirmed that haplogroup H had the highest VO2max of any European haplogroup (but with significantly higher mitochondrial oxidative damage), while haplogroup J had the lowest. They point out that the variations in VO(2max) can explain some reported associations between mitochondrial haplogroups and mtOD with longevity, sperm motility, premature aging and susceptibility to different pathologies.

Tamura et al. (2010) (https://www.ncbi.nlm.nih.gov/pubmed/19717174?access_num=19717174&link_type=MED&dopt=Abstract) reported that the m.5178C genotype may be favorable for endurance running performance. However that polymorphism does not define any European haplogroup, but only the East Asian and Amerindian haplogroup D.

Mikami et al. (2010) (http://bjsm.bmj.com/content/45/15/1179) reported that haplogroups G1 and F are associated with elite endurance/middle-power and sprint/power athletic status, respectively.

Murakami et al. (2002 (https://www.jstage.jst.go.jp/article/jjphysiol/52/3/52_3_247/_pdf)) had found that associations for V̇o2max at pretraining with sites 16298, 16325, and 199 and for the training responsiveness of V̇o2max with sites 16223 and 16362. These polymorphisms are found in:

- 199C : J1b1a2, J1b5a, K1a4a1c1, K1a11, K1b1a1a, K1b1a1b, N1a1'2 (including all haplogroup I), N2a, T2b3d, U2d, U5a1f1a, U5b1d1b, W3a1c, W3a1d, W3b,
- 16298C : HV0, H6a1a8, T2f1a
- 16325C : H1an2, H5g, H6b2, H104a, R0a2k1, T1a1m, T1a8a, T3, U5b2a1b

- 16223T : all haplogroups except R (HV, H, V, J, T, U, K), so essentially I, W and X. Back mutations from R happened in U4a2b and K1a1b1d.
- 16362C : see above

Maciamo
08-11-16, 10:33
Zapico & Uberlaker 2013 (http://www.aginganddisease.org/article/2013/2152-5250/147397) studied the role of mtDNA mutations in ageing and diseases.

Apart from their role in mitochondrial disease, they reported that some mutations in the coding region of the mtDNA were associated with an increased risk for Parkison's disease and for Alzheimer's disease.

Parkison's related mutations

11778 : does not define any European haplogroup
10398A : defines haplogroup N and therefore all European haplogroups, but reverse mutations took place in haplogroup J (but reversed again in J1c8), K1, K2a11, N1a1 (which includes all haplogroup I), U6a5c, U8c, W1e1a, W3a1d and X2f1.


Alzheimer's related mutations

4977 : does not define any European haplogroup
10398A : same as above
T414G : does not define any European haplogroup
T477C : does not define any European haplogroup


Therefore these are essentially private or de novo mutations, or even mutations caused by toxins, oxidative stress or ageing itself. All we can say based on this study is that members of mt-haplogroups I, J, K1, N1a1, U8c and a few deep clades have a slightly lower chance of developing Parkinson's disease.

Maciamo
08-11-16, 11:59
Montiel Sosa et al. (2006) (http://cnc.cj.uc.pt/BEB/private/pdfs/2007-2008/RepBiology/ExtraBibliog/MontielSosa2006.pdf) studied sperm motility and vitality within members of haplogroup U and K in Spain and found that the highest motility and vitality was found within haplogroup U5b and the lowest among haplogroup U4.

Angela
08-11-16, 16:00
A study on Finnish endurance athletes (Niemi and Majamaa (2005) (http://www.nature.com/ejhg/journal/v13/n8/full/5201438a.html)) showed that the frequencies of mtDNA haplogroups differed significantly between sprint and endurance athletes. Most notably, none of the endurance athletes belonged to haplogroup K or subhaplogroup J2, both of which have previously been associated with longevity.




A similar study (Maruszak 2014 (https://www.ncbi.nlm.nih.gov/pubmed/23163620)) analysed the mtDNA of 395 elite Polish athletes (213 endurance athletes and 182 power athletes) and 413 sedentary controls and found that mtDNA haplogroup H and HV cluster influence endurance performance at the Olympic/World Class level of performance (P = 0.018 and P = 0.0185, respectively).

Based on the percentages in the elite vs sedentary groups in the supplementary data, it appears that haplogroups I, K, V and W are less common among athletes, while HV, H, R0, U and X are more common. If we break down the results between endurance athletes vs power athletes, haplogroups H and X displays an overwhelming association with endurance types. Haplogroup H represented 50% of endurance athletes vs 42.78% for power athletes and 44.75% in sedentary controls, while haplogroup X was found in 1.9% of endurance types vs 1.1% of power types and 1.2% of controls. R0/HV and W are the most overrepresented among power athletes. R0/HV scored 2.7% for power vs 1.8% for endurance. Haplogroup W was found in 4.4% of power types vs only 1.4% of endurance types, with controls in the middle at 3.5%. Haplogroup U was slightly more common among power athletes (21.7%) than endurance ones (19%), but considerably more than in controls (17.5%).

This study did not find any difference in frequency between athletes and controls for haplogroups N1/I, J and T, although some subclades contain mutations associated with greater athletic performance. Haplogroup K was the only one that was much less common among athletes (3%) than sedentary controls (6%).

The authors reported that two mtDNA mutations were associated with achieving the elite performance level either in the total athlete's group as compared with controls (m.16362C, 3.8% vs 9.2%, respectively, P = 0.0025, odds ratio = 0.39, 95% confidence interval: 0.21-0.72), or in the endurance athletes as compared with controls (m.16080G, 2.35% vs 0%, respectively, P = 0.004).

- 16362C defines haplogroups I1c, J1c2j, J2b1a1a, K1a1c, K1a5a, K1d, K1e, K1f, HV1d, H1b1 (subclades a, b, c, d and h only), H1c3b, H1bv1, H3ak, H6, H8, H13b, H20a1a, R0a'b, T1a13, T2b16, T2i, U1a1d, U2e, U3b2b, U4a2c1, U4a3, U4b1a1a1, U5a1a1c, U5a1b3, U5a1b4, U5a2e, U5b2b1a, U6a3e, V19 and W5a.

- 16080G defines haplogroup H1b2 only.


Eynon et al. 2011 (http://physiolgenomics.physiology.org/content/43/13/789) reviewed the association between certain mtDNA lineages and aerobic performance, characterized by maximal oxygen uptake (V̇o2max). Here is a summary.

Castro et al. (2007) (https://www.ncbi.nlm.nih.gov/pubmed/17660050?access_num=17660050&link_type=MED&dopt=Abstract) found that mtDNA haplogroup T is negatively associated with elite endurance athletic status.

Marcuello et al. (2008 (https://www.ncbi.nlm.nih.gov/pubmed/18952007?access_num=18952007&link_type=MED&dopt=Abstract)) found that haplogroup J was related with a lower efficiency of electron transport chain (ETC), diminished ATP and ROS production, and lower V̇o2max.

Martínez-Redondo et al. (2010) (https://www.ncbi.nlm.nih.gov/pubmed/19900587?access_num=19900587&link_type=MED&dopt=Abstract) confirmed that haplogroup H had the highest VO2max of any European haplogroup (but with significantly higher mitochondrial oxidative damage), while haplogroup J had the lowest. They point out that the variations in VO(2max) can explain some reported associations between mitochondrial haplogroups and mtOD with longevity, sperm motility, premature aging and susceptibility to different pathologies.

Tamura et al. (2010) (https://www.ncbi.nlm.nih.gov/pubmed/19717174?access_num=19717174&link_type=MED&dopt=Abstract) reported that the m.5178C genotype may be favorable for endurance running performance. However that polymorphism does not define any European haplogroup, but only the East Asian and Amerindian haplogroup D.

Mikami et al. (2010) (http://bjsm.bmj.com/content/45/15/1179) reported that haplogroups G1 and F are associated with elite endurance/middle-power and sprint/power athletic status, respectively.

Murakami et al. (2002 (https://www.jstage.jst.go.jp/article/jjphysiol/52/3/52_3_247/_pdf)) had found that associations for V̇o2max at pretraining with sites 16298, 16325, and 199 and for the training responsiveness of V̇o2max with sites 16223 and 16362. These polymorphisms are found in:

- 199C : J1b1a2, J1b5a, K1a4a1c1, K1a11, K1b1a1a, K1b1a1b, N1a1'2 (including all haplogroup I), N2a, T2b3d, U2d, U5a1f1a, U5b1d1b, W3a1c, W3a1d, W3b,
- 16298C : HV0, H6a1a8, T2f1a
- 16325C : H1an2, H5g, H6b2, H104a, R0a2k1, T1a1m, T1a8a, T3, U5b2a1b

- 16223T : all haplogroups except R (HV, H, V, J, T, U, K), so essentially I, W and X. Back mutations from R happened in U4a2b and K1a1b1d.
- 16362C : see above

I've often wondered if the frequency of mtDna "H" has something to do with "fitness", and not just in terms of "endurance", either.

Maciamo
09-11-16, 18:13
I've often wondered if the frequency of mtDna "H" has something to do with "fitness", and not just in terms of "endurance", either.

Surely to some extent. Haplogroup H isn't just more common among athletes, but men with this mtDNA type also have better sperm motility. MtDNA seems to mobilise energy more efficiently within the cells. The drawback is faster ageing and greater rates of cancer and neurodegenerative diseases. As often in genetics, you can't have it all.

AmyG
20-06-18, 01:57
I'm new to the forums and find this all so very fascinating. I had delayed growth or short stature (never on a growth chart growing up) and MD told my mother I had something wrong with me; that I'd not make it to reach 5 feet, which I did by one more inch. My son who is twelve is extremely small for his age (delayed bone age) so it will be interesting to reach the correlation between DNA and size outcome.

AmyG
20-06-18, 02:07
I'm curious about the athletic part of DNA. My 23andme results stating that I had muscle composition of that of Olympic athletes but I have N1a (maternal side) & J-M205 (paternal side) so I'm wondering if that is accurate? I have natural muscle tone w/out having to try too hard but I don't feel like I have great endurance with certain activities such as running but I don't know if it's physical or mental.

Maciamo
20-06-18, 11:17
I'm curious about the athletic part of DNA. My 23andme results stating that I had muscle composition of that of Olympic athletes but I have N1a (maternal side) & J-M205 (paternal side) so I'm wondering if that is accurate? I have natural muscle tone w/out having to try too hard but I don't feel like I have great endurance with certain activities such as running but I don't know if it's physical or mental.

23andMe reports muscle composition based on the ACTN3 gene. You can either have the sprinter type or endurance type. MtDNA is not about muscle composition, but about energy production inside all body cells (not just muscle cells). The two are complementary. Mt-haplogroup N1a is not associated with increased athletic performance. Y-DNA haplogroups are not known to play any role in athletic performance.

Henry1122
12-12-18, 08:05
Hereditary maladies are clearly caused by our qualities, the advancement in the field of hereditary qualities is continually giving us new signs in regards to the relationships between's sure hereditary sorts and a hazard to build up a few illnesses...



























Not how long, but how well you have lived is the main thing

matty74
02-02-19, 11:09
What about hearing loss? More specifically caused by the SLC26A4 gene mutation.

Magdaline
02-06-19, 19:45
According to ..... mtdna mutation T8993T is associated with a 7-fold increased risk for prostate cancer. This mutation does not define any haplogroup or common subclade.

.......found the C150T mutation to be associated with centenarians (longevity) and resistance to stress. C150T is found in various haplogroups. The study found cases in the European haplogroups N1b, HV, H, J, T and U.

C150T defines haplogroups HV1a1, HV12b, H1e1a6, H1o, H1as1, H1av1, H6a1a7, I5a3, J1b7, J1c1c, K1a11, K3, R1b, T2b9, T2c1c1, T2e, U3, U5a1h, U5b, U6a3f, U6a4, U6a7a1b, U6c, V19, V22 and W5a2.

Among non European or Mediterranean haplogroups C150T is also found in haplogroups B4c1b, B4c1c, B6 F1a3a2, F1e3, F3b1, N9a, N10b, N11b, N21, N22, R0a4, R8b2.

I just read a study by Chen A. et al "Decreased Reactive Oxygen Species..." dated Oct 29, 2012 stated "The C150T transition was not associated with longevity in the U5, T2, and N9a haplogroups." This statement would eliminate the inclusion of U5 from the longevity assertion.

BTW, my mother who is U5b, will be 92 soon.

M.

aleph
12-07-19, 15:22
According to this here:https://pdfs.semanticscholar.org/ea39/fc41b5d6d547237ab968cd95f477a4d06e27.pdf a higher brain pH/more alkaline brain correlates more strongly with verbal IQ than with non-verbal IQ.