Hacd2 deficiency in mice leads to an early and lethal mitochondrial disease.

ABSTRACT:

Objective

Mitochondria fuel most animal cells with ATP, ensuring proper energetic metabolism of organs. Early and extensive mitochondrial dysfunction often leads to severe disorders through multiorgan failure. Hacd2 gene encodes an enzyme involved in very long chain fatty acid (C ≥ 18) synthesis, yet its roles in vivo remain poorly understood. Since mitochondria function relies on specific properties of their membranes conferred by a particular phospholipid composition, we investigated if Hacd2 gene participates to mitochondrial integrity.

Methods

We generated two mouse models, the first one leading to a partial knockdown of Hacd2 expression and the second one, to a complete knockout of Hacd2 expression. We performed an in-depth analysis of the associated phenotypes, from wh

SUBMITTER: Khadhraoui N 

PROVIDER: S-EPMC9986742 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature