An Overview of Molecular Mechanisms in Fabry Disease Biomolecules.

2022 Oct 12;12(10):1460. doi: 10.3390/biom12101460.

PMID: 36291669

Federica Amodio, Martina Caiazza, Emanuele Monda

Highlights: This review provides an overview of the main features of FD, focusing on its molecular mechanism and the role of biomarkers.

Abstract

Background: One instance of a rare inherited lysosomal storage disorder (LSD) is Fabry disease (FD) (OMIM #301500). Due to specific enzyme defects, LSDs are characterized by improper lipid accumulation in lysosomes. α -galactosidase A (α-Gal A), which results from a mutation in the GLA gene on the X chromosome, is the defective enzyme in FD. In the lysosomes of numerous tissues and organs, such as endothelial cells, smooth muscle cells, corneal epithelial cells, renal glomeruli and tubules, cardiac muscle, and ganglion cells of the nervous system, the enzyme deficiency causes a continuous deposition of neutral glycosphingolipids (globotriaosylceramide). Progressive organ failure and premature death are consequences of this condition. Enzyme replacement treatment (ERT), which tries to delay, if not stop, the progression of the metabolic condition, was recently introduced as a result of growing knowledge about FD and LSD in general.

Objective: This review gives a summary of the basic characteristics of FD, concentrating on its molecular mechanism and the function of biomarkers.

Keywords: Fabry disease, GLA gene, biomarkers, mutations, α-galactosidase A