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MELAS point mutation with unusual clinical presentation
A L Shanske1, S Shanske, G Silvestri
1Department of Pediatrics, Queens Hospital Center Affiliation, Albert Einstein College of Medicine, Jamaica, NY 11432.
Abstract:
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a multisystemic mitochondrial disorder (Pavlakis et al. Advances in Contemporary Neurology. Philadelphia: Davis, 1988: 95-133) and most patients with the typical MELAS phenotype have a point mutation in mitochondrial DNA, an A to G transition at nucleotide 3243 (Goto et al. Nature 1990; 348; 651-653; Koboyashi et al. Biochem Biophys Res Commun 1990; 173: 816-822; Ciafaloni et al. Ann Neurol 1992; 31: 391-398). A 9-yr-old boy presenting with chronic asthma and depression was found to have abnormal mitochondria, partial defects of respiratory chain enzymes, and the MELAS point mutation.
Insights
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a mitochondrial disorder. A 9-year-old boy with asthma and depression was diagnosed with MELAS due to abnormal mitochondria and a specific genetic mutation.
Area of Science:
- Genetics
- Neurology
- Mitochondrial Biology
Background:
- Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a significant multisystemic mitochondrial disorder.
- The typical MELAS phenotype is often associated with a specific point mutation (A to G transition at nucleotide 3243) in mitochondrial DNA.
Observation:
- A 9-year-old male patient presented with chronic asthma and depression.
- Diagnostic evaluation revealed abnormal mitochondria and partial defects in respiratory chain enzymes.
Findings:
- The patient was found to have the characteristic MELAS point mutation in his mitochondrial DNA.
- This case links the MELAS mutation to a presentation involving chronic asthma and depression.
Implications:
- Highlights the diverse clinical manifestations of MELAS beyond classic neurological symptoms.
- Suggests the importance of considering mitochondrial disorders in pediatric patients with complex, seemingly unrelated symptoms.
- Underscores the role of genetic testing in diagnosing mitochondrial disorders.