April 24, 2009

mtDNA haplogroup T and coronary artery disease/diabetic retinopathy

BMC Med Genet. 2009 Apr 21;10(1):35. [Epub ahead of print]

Mitochondrial DNA haplogroup T is associated with coronary artery disease and diabetic retinopathy: a case control study.

Kofler B, et al.

ABSTRACT: BACKGROUND: There is strong and consistent evidence that oxidative stress is crucially involved in the development of atherosclerotic vascular disease. Overproduction of reactive oxygen species (ROS) in mitochondria is an unifying mechanism that underlies micro- and macrovascular atherosclerotic disease. Given the central role of mitochondria in energy and ROS production, mitochondrial DNA (mtDNA) is an obvious candidate for genetic susceptibility studies on atherosclerotic processes. We therefore examined the association between mtDNA haplogroups and coronary artery disease (CAD) as well as diabetic retinopathy. METHODS: This study of Middle European Caucasians included patients with angiographically documented CAD (n=487), subjects with type 2 diabetes mellitus with (n=149) or without (n=78) diabetic retinopathy and control subjects without clinical manifestations of atherosclerotic disease (n=1527). MtDNA haplotyping was performed using multiplex PCR and subsequent multiplex primer extension analysis for determination of the major European haplogroups. Haplogroup frequencies of patients were compared to those of control subjects without clinical manifestations of atherosclerotic disease. RESULTS: Haplogroup T was significantly more prevalent among patients with CAD than among control subjects (14.8% vs 8.3%; p=0.002). In patients with type 2 diabetes, the presence of diabetic retinopathy was also significantly associated with a higher prevalence of haplogroup T (12.1% vs 5.1%; p=0.046). CONCLUSION: Our data indicate that the mtDNA haplogroup T is associated with CAD and diabetic retinopathy in Middle European Caucasian populations.

Link

3 comments:

pconroy said...

Can anyone with access to the full paper tell me if the results are for all mtDNA T, or for certain T sub-clades?

I myself am mtDNA T1a

Rebekah C said...

It is likely that what this really means is that a sub-sub-branch of mtDNA haplogroup T is specific to a population isolate in the middle east that has these susceptibilities.

There are some very real mitochondrial diseases out there but they are not haplogroup specific.

Rebekah

pconroy said...

Rebekah,

It says that these results are for:

CONCLUSION: Our data indicate that the mtDNA haplogroup T is associated with CAD and diabetic retinopathy in Middle European Caucasian populations.Do you mean a Caucasian population isolate of Middle Eastern extraction in Middle Europe - which is usually Germany, Austria, Czech Republic? If that's the case that could only refer to people of Jewish or Turkish extraction, right?