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[Phenotype heterogeneity associated with mitochondrial DNA A3243G mutation]
Ying Zhang1, Zhao-xia Wang, Shu-lan Niu
1Department of Central Laboratory, First Hospital of Peking University, Beijing 100034, China. zxsys@mail.bjmu.edu.cn
Summary
The mitochondrial DNA A3243G mutation presents diverse clinical features and brain imaging results. Elevated lactic acid and multi-organ involvement warrant consideration for mitochondrial diseases.
Area of Science:
- Genetics and Molecular Biology
- Neurology
- Mitochondrial Biology
Context:
- Mitochondrial DNA (mtDNA) mutations are implicated in various human diseases.
- The A3243G point mutation in mtDNA is a known cause of mitochondrial disorders.
- Understanding the phenotypic variability associated with this mutation is crucial for diagnosis.
Purpose:
- To delineate the clinical characteristics and diagnostic findings in patients with the A3243G mtDNA mutation.
- To correlate genotype with phenotype in a cohort of patients presenting with suspected mitochondrial encephalomyopathies.
Summary:
- Twenty-five patients with the A3243G mtDNA mutation exhibited a wide spectrum of clinical manifestations, including MELAS, undiagnosed encephalopathies, floppy infants, KSS, and mitochondrial entero-myopathy.
- All patients displayed elevated blood lactic acid levels.
- Cranial imaging and muscle biopsies frequently revealed abnormalities, such as abnormal radiological findings and ragged-red-fibers.
Impact:
- Highlights the significant heterogeneity in clinical presentation and neuroimaging findings associated with the A3243G mtDNA mutation.
- Emphasizes the importance of considering mitochondrial diseases in patients with multi-system involvement and elevated serum lactic acid.
- Underscores the necessity of mtDNA mutation analysis for accurate diagnosis of mitochondrial disorders.