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MPV17 Gene Variant Mutation Presenting as Leucoencephalopathy with Peripheral Neuropathy
Ravindranadh Chowdary Mundlamuri1, Pradeep Divate2, Parthasarthy Satishchandra3
1Department of Neurology, NIMHANS, Bengaluru, Karnataka, India.
Neurology India
|January 4, 2022
Summary
Mitochondrial DNA depletion syndromes (MDS) are rare genetic disorders. This report details a novel MPV17 gene mutation in India causing neuropathy, leucoencephalopathy, and liver issues.
Area of Science:
- Genetics
- Neurology
- Biochemistry
Background:
- Mitochondrial DNA depletion syndromes (MDS) represent a group of rare genetic disorders characterized by decreased mitochondrial DNA copy number.
- These syndromes exhibit significant genotypic and phenotypic heterogeneity, posing diagnostic challenges.
Observation:
- This report presents the first case from India of a patient with a mutation in the MPV17 gene, which encodes a mitochondrial inner membrane protein.
- The patient exhibited a complex clinical presentation including neuropathy and leucoencephalopathy.
Findings:
- The MPV17 gene variant mutation was associated with subclinical hepatic dysfunction, highlighting the systemic impact of this genetic defect.
- Detailed clinical and neuroimaging descriptions provide valuable insights into the phenotype of this specific MPV17 mutation.
Implications:
- This case expands the known spectrum of MPV17 mutations and their clinical manifestations in MDS.
- Early identification and characterization of such mutations are crucial for timely diagnosis and management of mitochondrial disorders.
