A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.

Journal article

Deficiency of the mitochondrial enzyme 2-methyl-3-hydroxybutyryl-CoA dehydrogenase involved in isoleucine metabolism causes an organic aciduria with atypical neurodegenerative course. The disease-causing gene is HSD17B10 and encodes 17beta-hydroxysteroid dehydrogenase type 10 (HSD10), a protein also implicated in the pathogenesis of Alzheimer's disease. Here we show that clinical symptoms in patients are not correlated with residual enzymatic activity of mutated HSD10. Loss-of-function and re...

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Authors: Rauschenberger, K; Schöler, K; Sass, J; Sauer, S; Djuric, Z

• Journal: EMBO molecular medicine
• Volume: 2
• Issue: 2
• Pages: 51-62
• Publication date: 2010-01-01
• ISSN: 1757-4684
• Language: English
• Subjects: Gene Deletion; Models, Molecular; Fibroblasts; Genetic Complementation Test; Protein Structure, Tertiary; Apoptosis; Mice, Knockout; ultrastructure; Mitochondria; Neurons; Cell Survival; 3-Hydroxyacyl CoA Dehydrogenases; Xenopus; Infant; deficiency; Hydroxysteroid Dehydrogenases; physiology; Cells, Cultured; metabolism