Characterization of a phenotypically severe animal model for human AB-Variant GM2 gangliosidosis.

ABSTRACT: AB-Variant GM2 gangliosidosis (ABGM2) is a rare and lethal genetic disorder caused by mutations in the GM2A gene that lead to fatal accumulation of GM2 gangliosides (GM2) in neurons of the central nervous system (CNS). GM2A encodes a transport protein known as GM2 activator (GM2A) protein, which is essential for degrading GM2 into their GM3 form. ABGM2 presents in infantile-, juvenile-, and adult-onset forms; of the three, the infantile-onset is the most prominent, and by far the most severe, as evidenced by high levels of GM2 accumulation, widespread neurodegeneration, and death by the age of 4. Gm2a^-/- mice are commonly used as a model of ABGM2. These mice are characterized by phenotypes most representative of predicted adult-onset form of ABGM2, which inc

SUBMITTER: Deschenes NM 

PROVIDER: S-EPMC10720325 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature