Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations.

ABSTRACT:

Objective

The purpose of this study was to investigate correlations between brain proton magnetic resonance spectroscopy (¹ H-MRS) findings with serum biomarkers and heteroplasmy of mitochondrial DNA (mtDNA) mutations. This study enrolled patients carrying mtDNA mutations associated with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS), and MELAS-Spectrum Syndrome (MSS).

Methods

Consecutive patients carrying mtDNA mutations associated with MELAS and MSS were recruited and their serum concentrations of lactate, alanine, and heteroplasmic mtDNA mutant load were evaluated. The brain protocol included single-voxel ¹ H-MRS (1.5T) in the medial parieto-occipital cortex (MPOC), left cerebellar hemisphere, parieto-occipital whi

SUBMITTER: Gramegna LL 

PROVIDER: S-EPMC8164862 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature