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Published on: April 4, 2018
MPV17 Gene Variant Mutation Presenting as Leucoencephalopathy with Peripheral Neuropathy
Ravindranadh Chowdary Mundlamuri1, Pradeep Divate2, Parthasarthy Satishchandra3
1Department of Neurology, NIMHANS, Bengaluru, Karnataka, India.
Abstract:
Mitochondrial DNA depletion syndromes (MDS) are rare mitochondrial disorders with evolving broad genotype and phenotype. This is a first case report from India about MPV 17, a mitochondrial inner membrane protein gene variant mutation, presenting with neuropathy, leucoencephalopathy and subclinical hepatic dysfunction with detailed clinical and imaging description.
Insights
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.
