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Multisystem clinicopathologic and genetic analysis of MELAS
Shuai Xu1, Jialiu Jiang1, Leilei Chang1
1Department of Neurology, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School, Nanjing University, Zhongshan Road 321#, Nanjing, 210008, Jiangsu, China.
Orphanet Journal of Rare Diseases
|December 24, 2024
Summary
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is a rare disorder. This study details MELAS symptoms, genetic causes, and diagnostic findings, improving understanding of this complex condition.
Area of Science:
- Neurology
- Genetics
- Mitochondrial Biology
Background:
- Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disorder.
- It primarily affects the central nervous system and skeletal muscle, presenting with diverse clinical manifestations.
Purpose of the Study:
- To comprehensively summarize the clinical symptoms, multisystemic pathogenesis, and genetic characteristics of MELAS syndrome.
- To enhance clinical practice understanding and explore current pathophysiological theories.
Main Methods:
- Retrospective analysis of 29 MELAS patients diagnosed between 2014 and 2022.
- Evaluation of multisystem symptoms, MRI/MRS, muscle biopsy, and mitochondrial DNA (mtDNA) data.
Main Results:
- Predominant symptoms included stroke-like episodes, proximal muscle weakness, and exercise intolerance.
- MRI revealed nonvascular cortical infarcts; spectroscopy showed increased lactate and reduced NAA.
- Muscle biopsies indicated ragged red fibers and COX-deficient cells, alongside various mtDNA mutations.
Conclusions:
- MELAS is a rare syndrome with significant clinical and genetic heterogeneity.
- Pathogenesis involves mitochondrial metabolic dysfunction and enzyme activity impairment.
- Mitochondrial vasculopathy and neuropathy may explain stroke-like episodes.
