SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy
| Autor: | Stefano Duga, Roberto Ceravolo, Nereo Bresolin, Alessio Di Fonzo, Letizia Straniero, Stefania Corti, Maria Chiara Malaguti, Giacomo P. Comi, Alberto Morini, Franco Taroni, Daniela Frosini, Edoardo Monfrini, Giacomo Bitetto, Raffaella Di Giacopo, Giovanni Palermo, Dario Ronchi, Bruno Giometto, Fabio Biella |
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| Přispěvatelé: | Bitetto, G., Malaguti, M. C., Ceravolo, R., Monfrini, E., Straniero, L., Morini, A., Di Giacopo, R., Frosini, D., Palermo, G., Biella, F., Ronchi, D., Duga, S., Taroni, F., Corti, S., Comi, G. P., Bresolin, N., Giometto, B., Di Fonzo, A. |
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
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 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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