Neurological manifestations in adult patients with the m.3243A>G variant in mitochondrial DNA.

ABSTRACT:

Abstract

Background

The m.3243A>G variant in mitochondrial DNA (mtDNA) is the most common cause of the MELAS (Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes) syndrome usually commencing in childhood or adolescence. In adults, the variant presents with versatile and mostly neurological phenotypes, but MELAS may not be common.

Objective

To examine the frequency of phenotypes in adults with m.3243A>G in a population-based cohort and in a meta-analysis of reported case series.

Methods

We clinically examined 51 adult patients with m.3243A>G to determine the frequency of phenotypes and to analyse the contribution of variant heteroplasmy, age, sex and mtDNA haplogroup to the phenotypes. The frequencies of neurological features were also assess

SUBMITTER: Majamaa K 

PROVIDER: S-EPMC11423728 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature