CHCHD2 mutational screening in Brazilian patients with familial Parkinson's disease

Abstract

Robust evidence on the involvement of genetic factors in the etiology of Parkinson's disease (PD) expands our knowledge about monogenic causes that contribute for this important neurodegenerative disorder. Mutations in the CHCHD2 gene have been linked to autosomal dominant forms of PD, although there is still lack of evidence for CHCHD2 variants leading to the disease in mixed populations as those from South America. To assess the contribution of CHCHD2 as a causal factor for familial PD in Brazil, one of the most heterogeneous populations in the world, we conducted the first molecular analysis of the CHCHD2 gene in a cohort of 122 index cases from Brazilian families with autosomal dominant forms of PD. Genomic DNA was isolated from peripheral blood and the 4 exons of the CHCHD2 gene, and their intron-exon boundaries were analyzed by bidirectional Sanger sequencing. No pathogenic or risk variants were found, suggesting that genetic variants of CHCHD2 are not a common cause of familial PD in Brazilian patients.

Keywords: ADPD; Brazilian; CHCHD2; Familial PD; Parkinson's disease.