An in silico approach to identify early damage biomarker candidates in metachromatic leukodystrophy.

ABSTRACT: Metachromatic leukodystrophy (MLD) is a rare, autosomal recessive lysosomal storage disease. Deficient activity of arylsulfatase A causes sulfatides to accumulate in cells of different tissues, including those in the central and peripheral nervous systems, leading to progressive demyelination and neurodegeneration. Although there is some association between specific arylsulfatase A alleles and disease severity, genotype-phenotype correlations are not fully understood. We aimed to identify biomarker candidates of early tissue damage in MLD using a modeling approach based on systems biology. A review of the literature was performed in an initial disease characterization step, allowing identification of pathophysiological processes involved in MLD and proteins relating to these processes. Thr

SUBMITTER: Gomez J 

PROVIDER: S-EPMC10233284 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature