Publications by authors named "Johanna L St-Louis"
Congenital hyperinsulinism of infancy (CHI) can be caused by a deficiency of the ubiquitously expressed enzyme short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD). To test the hypothesis that SCHAD-CHI arises from a specific defect in pancreatic β-cells, we created genetically engineered β-cell-specific (β-SKO) or hepatocyte-specific (L-SKO) SCHAD knockout mice. While L-SKO mice were normoglycemic, plasma glucose in β-SKO animals was significantly reduced in the random-fed state, after overnight fasting, and following refeeding.
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- Short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) is a key mitochondrial enzyme involved in fatty acid oxidation and insulin secretion, with mutations in the HADH gene linked to congenital hyperinsulinism of infancy (CHI).
- Researchers evaluated 16 missense variants of SCHAD, some associated with CHI and others identified through population sequencing, using a specially constructed HEK293 cell line lacking SCHAD to study protein stability and function.
- The study found that certain CHI-associated variants resulted in unstable proteins or decreased enzymatic activity, while rare variants in the general population had similar properties to normal SCHAD, indicating that not all variants impact protein function.