Identification of a missense ARSA mutation in metachromatic leukodystrophy and its potential pathogenic mechanism.

ABSTRACT:

Background

Metachromatic leukodystrophy (MLD) is a rare inherited lysosomal disorder caused by mutations in ARSA. The biological processes of MLD disease caused by candidate pathogenic mutations in the ARSA gene remain unclear.

Methods

We used whole-exome sequencing (WES) and Sanger sequencing to identify the pathogenic mutation in a Chinese family. Literature review and protein three-dimensional structure prediction were performed to analyze the potential pathogenesis of the identified mutations. Overexpression cell models of wild-type and mutated ARSA genes were constructed. The accumulated sulfatides and expression profiles in the cell models were detected, and a series of bioinformatics analyses were carried out to compare the biological changes caused by the candidate p

SUBMITTER: Guo L 

PROVIDER: S-EPMC7667344 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature