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.
SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy / 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, Stefano; Taroni, Franco; Corti, Stefania; Comi Giacomo, P.; Bresolin, N.; Giometto, B.; Di Fonzo, A.. - In: PARKINSONISM & RELATED DISORDERS. - ISSN 1353-8020. - 74:(2020), pp. 1-5. [10.1016/j.parkreldis.2020.03.018]
SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy
Ceravolo R.;Di Giacopo R.;Palermo G.;Giometto B.;
2020-01-01
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione
