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Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS‐associated mtDNA mutations
- Source :
- Annals of Clinical and Translational Neurology, Vol 8, Iss 6, Pp 1200-1211 (2021), Annals of Clinical and Translational Neurology
- Publication Year :
- 2021
- Publisher :
- Wiley, 2021.
-
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
- Subjects :
- Male
0301 basic medicine
Mitochondrial encephalomyopathy
Proton Magnetic Resonance Spectroscopy
Choline
chemistry.chemical_compound
0302 clinical medicine
Cerebellum
Lateral Ventricles
MELAS Syndrome
Research Articles
Cerebral Cortex
General Neuroscience
Neurodegeneration
Middle Aged
White Matter
Heteroplasmy
medicine.anatomical_structure
Lactic acidosis
MELAS
1 H-MRS
brain proton magnetic resonance spectroscopy
Research Article
RC321-571
Adult
medicine.medical_specialty
Mitochondrial DNA
Adolescent
Neurosciences. Biological psychiatry. Neuropsychiatry
Creatine
DNA, Mitochondrial
White matter
Young Adult
03 medical and health sciences
Internal medicine
medicine
Humans
MELAS-Spectrum Syndrome
RC346-429
Aged
Aspartic Acid
business.industry
mtDNA mutation
medicine.disease
030104 developmental biology
Endocrinology
chemistry
Mutation
Neurology. Diseases of the nervous system
Neurology (clinical)
business
Biomarkers
Inositol
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 23289503
- Volume :
- 8
- Database :
- OpenAIRE
- Journal :
- Annals of Clinical and Translational Neurology
- Accession number :
- edsair.doi.dedup.....318a956a4d25c8729834129120bd659f