Detection rates and phenotypic spectrum of m.3243A>G in the MT-TL1 gene: a molecular diagnostic laboratory perspective.

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.3243A>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.3243A>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.3243A>G mutation.

• Authors: J Chin, R Marotta, M Chiotis, E H Allan, S J Collins
• Journal: Mitochondrion (Mitochondrion) Vol. 17 Pg. 34-41 (Jul 2014) ISSN: 1872-8278 [Electronic] Netherlands
• PMID: 24846800 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2014 © Elsevier B.V. and Mitochondria Research Society. Published by Elsevier B.V. All rights reserved.

Chemical References

• DNA, Mitochondrial
• RNA, Transfer, Leu

Topics

• Adolescent
• Adult
• Aged
• Child
• DNA, Mitochondrial (genetics)
• Female
• Genes, Mitochondrial
• Genetic Testing
• Humans
• MELAS Syndrome (epidemiology, genetics)
• Male
• Middle Aged
• Point Mutation
• Prevalence
• RNA, Transfer, Leu (genetics)
• Young Adult