No association of the mitochondrial DNA A12308G polymorphism with increased risk of stroke in patients with the A3243G mutation

Deschauer, M.; Chinnery, P. F.; Schaefer, A. M.; Turnbull, D. M.; Taylor, R. W.; Zierz, S.; Shanske, S.; Dimauro, S.; Majamaa, K.; Wilichowski, E.; Thorburn, D. R.
August 2004
Journal of Neurology, Neurosurgery & Psychiatry;Aug2004, Vol. 75 Issue 8, p1204
Academic Journal
This article focuses on a study that finds no association of the mitochondrial DNA A 12308G polymorphism with increased risk of stroke in patients with the A3242G mutation. Only 50% of patients carrying the A3243G mutation have stroke-like episodes and the reason for this clinical variability remains poorly understood. It is responsible for 80% of cases of MELAS, mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes, and is also associated with several other phenotypes including maternally inherited diabetes and deafness and chronic progressive external ophthalmoplegia. Researchers carried out a large, multicentre study to investigate the A12308G polymorphism in a group of 107 unrelated family index cases harbouring the A3243G mutation.


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