Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8399371 | Mitochondrion | 2014 | 8 Pages |
Abstract
The nucleotide change A to G at position m.3243 in the mitochondrial tRNA leucine (UUR) gene (MT-TL1) is the most common point mutation reported in association with the Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like episodes (MELAS) syndrome. Since the original description of this disorder, factors including random mitochondrial segregation and consequent variable tissue heteroplasmy are recognised to contribute to a much broader phenotypic spectrum associated with the MT-TL1 m.3243AÂ >Â G mutation, often rendering the process of making a diagnosis complex. Reliance on clinicians' referral patterns means that for most molecular diagnostic laboratories, their positive identification rates for the common pathogenic mitochondrial DNA (mtDNA) mutations, including MT-TL1 m.3243AÂ >Â G, is often relatively low compared to those reported in clinically targeted research studies. Herein, we report our results of consecutive prospective screening of 745 patients with a clinically suspected mitochondrial syndrome encompassing features associated with MT-TL1 m.3243AÂ >Â G mutation.
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Authors
J. Chin, R. Marotta, M. Chiotis, E.H. Allan, S.J. Collins,