Possible link between mtDNA haplogroup and cardiovascular diseases


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I was reading an article about the interaction between intestinal bacteria and the hardening of the arteries. The article explained how fatty acids were transported by carnitine (a substance found primarily in meat and eggs) into the mitochondria inside cells. Dr Hazen, of Cleveland Clinic, thinks that when carnitine is metabolised by gut bacteria, it increases the production TMAO by the liver, which in turn encourages atherosclerosis. Carnitine is also known to exacerbate the perverse effects of cholesterol.

What I find fascinating is the close connection between carnitine and mtDNA. Mitochondria needs carnitine to break down fatty acids to obtain usable energy. Carnitine deficiency leads to muscle weakness, cardiomyopathy, hypoglycemia and liver dysfunction, conditions that are typical of mitochondrial diseases.

But since excessive carnitine is also linked to atherosclerosis and cardiovascular diseases, it would be interesting to study the way different kinds of mitochondria (i.e. different mtDNA haplogroups) react to carnitine. Just as mtDNA mutations can lead to mitochondrial diseases, some mutations could affect the way mitochondria process carnitine. Some mutations may lead to a higher processing, lowering the excess carnitine in the body, and therefore also the risk of cardiovascular diseases. Societies that have traditionally had high meat consumption may carry more of those beneficial mtDNA mutations through natural selection, if it conferred more energy and less disease risk to meat eaters. The reverse is also true. Some mutations may cause dysfunction in the way carnitine transports fatty acids to the mitochondria.
This is very interesting.
My father suffered PAD for some time and died from a heart attack.
I believe his father suffered from circulatory problems in legs [possibly also PAD]. He too died from a heart attack.

Whilst knowing there was likely a genetic reason for it,I was unaware carnitine and mtDNA were so closely connected.

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