A novel peripherin gene (PRPH) mutation identified in one sporadic amyotrophic lateral sclerosis patient

作者：Corrado Lucia^*; Caromagno Yari; Falasco Luca; Mellone Simona; Godi Michela; Cova Emanuela; Cereda Cristina; Testa Lucia; Mazzini Letizia; D'Alfonso Sandra

来源：Neurobiology of Aging, 2011, 32(3): 552.e1.

DOI：10.1016/j.neurobiolaging.2010.02.011

• Amyotrophic lateral sclerosis
• Mutation
• Peripherin
• PRPH gene
• Sporadic

Motor neurons in amyotrophic lateral sclerosis (ALS) are characterized by the presence of inclusion bodies composed of intermediate filament (IF) proteins. Peripherin protein is as components of these inclusions and rare mutations in peripherin gene (PRPH) were identified in sporadic ALS cases. The aim of this study was to further define the spectrum of PRPH mutations in a cohort of 122 Italian ALS patients. We screened the coding sequence, the exon/intron boundaries, and the 5'-3' tin-translated regions (UTRs) in 122 ALS patients. Eighteen sequence variations were detected. Seven variants were not identified in a panel of at least 245 matched controls, including 2 missense variations, namely p.R133P and p.D141Y, each identified in one heterozygous patient. p.R133P was newly identified whereas p.D141Y was previously described in one homozygous sporadic ALS patient. These 2 variants were predicted to have a deleterious effect on protein structure or function. This work contributes to determine the role of PRPH gene variants in ALS. Further studies are necessary to define the mechanisms through which the mutant peripherin could cause ALS phenotype.

• 出版日期2011-3