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SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy
- Publication Year :
- 2020
-
Abstract
- Mutations in the gene encoding the mitochondrial carrier protein SLC25A46 are known to cause optic atrophy associated with peripheral neuropathy and congenital pontocerebellar hypoplasia. We found novel biallelic SLC25A46 mutations (p.H137R, p.A401Sfs*17) in a patient with Parkinson's disease and optic atrophy. Screening of six unrelated patients with parkinsonism and optic atrophy allowed us to identify two additional mutations (p.A176V, p.K256R) in a second patient. All identified variants are predicted likely pathogenic and affect very conserved protein residues. These findings suggest for the first time a possible link between Parkinson's Disease and SLC25A46 mutations. Replication in additional studies is needed to conclusively prove this link.
- Subjects :
- 0301 basic medicine
Adult
Male
Parkinson's disease
Pontocerebellar hypoplasia
Disease
Bioinformatics
Mitochondrial Proteins
03 medical and health sciences
0302 clinical medicine
Atrophy
medicine
Humans
Mitochondrial Protein
Phosphate Transport Proteins
Gene
Aged
Female
Mutation
Optic Atrophy
Parkinson Disease
Pedigree
business.industry
Parkinsonism
Mitochondrial carrier
medicine.disease
030104 developmental biology
Peripheral neuropathy
Neurology
Neurology (clinical)
Geriatrics and Gerontology
business
030217 neurology & neurosurgery
Human
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....e5de7f374312df1bdceb626ed3611d76