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

Authors :
Laura L. Gramegna
Stefania Evangelisti
Lidia Di Vito
Chiara La Morgia
Alessandra Maresca
Leonardo Caporali
Giulia Amore
Lia Talozzi
Claudio Bianchini
Claudia Testa
David N. Manners
Irene Cortesi
Maria L. Valentino
Rocco Liguori
Valerio Carelli
Caterina Tonon
Raffaele Lodi
Source :
Annals of Clinical and Translational Neurology, Vol 8, Iss 6, Pp 1200-1211 (2021)
Publication Year :
2021
Publisher :
Wiley, 2021.

Abstract

Abstract Objective The purpose of this study was to investigate correlations between brain proton magnetic resonance spectroscopy (1H‐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 1H‐MRS (1.5T) in the medial parieto‐occipital cortex (MPOC), left cerebellar hemisphere, parieto‐occipital white matter (POWM), and lateral ventricles. Relative metabolite concentrations of N‐acetyl‐aspartate (NAA), choline (Cho), and myo‐inositol (mI) were estimated relative to creatine (Cr), using LCModel 6.3. Results Six patients with MELAS (age 28 ± 13 years, 3 [50%] female) and 17 with MSS (age 45 ± 11 years, 7 [41%] female) and 39 sex‐ and age‐matched healthy controls (HC) were enrolled. These patients demonstrated a lower NAA/Cr ratio in MPOC compared to HC (p = 0.006), which inversely correlated with serum lactate (p = 0.021, rho = −0.68) and muscle mtDNA heteroplasmy (p

Details

Language :
English
ISSN :
23289503
Volume :
8
Issue :
6
Database :
Directory of Open Access Journals
Journal :
Annals of Clinical and Translational Neurology
Publication Type :
Academic Journal
Accession number :
edsdoj.58aa84ddf658458b85dd7401e6b621fe
Document Type :
article
Full Text :
https://doi.org/10.1002/acn3.51329