SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.

ABSTRACT:

Objective

There is increasing evidence that common genetic risk factors underlie frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). Recently, mutations in the sequestosome 1 (SQSTM1) gene, which encodes p62 protein, have been reported in patients with ALS. P62 is a multifunctional adapter protein mainly involved in selective autophagy, oxidative stress response, and cell signaling pathways. The purpose of our study was to evaluate the frequency of SQSTM1 mutations in a dataset of unrelated patients with FTLD or ALS, in comparison with healthy controls and patients with Paget disease of bone (PDB).

Methods

Promoter region and all exons of SQSTM1 were sequenced in a large group of subjects, including patients with FTLD or ALS, healthy controls, a

SUBMITTER: Rubino E 

PROVIDER: S-EPMC3655323 | biostudies-literature | 2012 Oct

REPOSITORIES: biostudies-literature