Arylsulfatase A pseudodeficiency in Mexico: Enzymatic activity and haplotype analysis.

ABSTRACT:

Background

Metachromatic Leukodystrophy (MLD, OMIM 250100) is a neurodegenerative disease caused by mutations in the ARSA gene (OMIM 607574) that lead to deficiency in Arylsulfatase A (ASA). ASA pseudodeficiency (PD-ASA) is a biochemical condition that substantially diminishes ASA activity but is not associated with clinical manifestations. PD-ASA is associated with the c.1055A>G (p.Asn352Ser) (rs2071421) and c.*96A>G (rs6151429) variants, which have an estimated frequency of 2% in the population.

Objective

To determine the activity of Arylsulfatase A and to identify variants and haplotypes in the ARSA gene in Mexican individuals with pseudodeficiency.

Methods

Two-hundred apparently healthy individuals were included to determine the enzymatic activity of ASA in leukoc

SUBMITTER: Juarez-Osuna JA 

PROVIDER: S-EPMC7434603 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature