Lysosomal gene Hexb displays haploinsufficiency in a knock-in mouse model of Alzheimer's disease.

ABSTRACT: Lysosomal network abnormalities are an increasingly recognised feature of Alzheimer's disease (AD), which appear early and are progressive in nature. Sandhoff disease and Tay-Sachs disease (neurological lysosomal storage diseases caused by mutations in genes that code for critical subunits of β-hexosaminidase) result in accumulation of amyloid-β (Aβ) and related proteolytic fragments in the brain. However, experiments that determine whether mutations in genes that code for β-hexosaminidase are risk factors for AD are currently lacking. To determine the relationship between β-hexosaminidase and AD, we investigated whether a heterozygous deletion of Hexb, the gene that encodes the beta subunit of β-hexosaminidase, modifies the behavioural phenotype and appearance of disease lesions in

SUBMITTER: Whyte LS 

PROVIDER: S-EPMC8819126 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature