Role of the cystathionine β-synthase / H₂S pathway in the development of cellular metabolic dysfunction and pseudohypoxia in down syndrome.

ABSTRACT:

Background

Overexpression of the transsulfuration enzyme cystathionine-β-synthase (CBS), and overproduction of its product, hydrogen sulfide (H₂S) are recognized as potential pathogenetic factors in Down syndrome (DS). The purpose of the study was to determine how the mitochondrial function and core metabolic pathways are affected by DS and how pharmacological inhibition of CBS affects these parameters.

Methods

8 human control and 8 human DS fibroblast cell lines have been subjected to bioenergetic and fluxomic and proteomic analysis with and without treatment with a pharmacological inhibitor of CBS.

Results

DS cells exhibited a significantly higher CBS expression than control cells, and produced more H₂S. They also exhibited suppressed mitochond

SUBMITTER: Panagaki T 

PROVIDER: S-EPMC9356176 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature