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

@inproceedings{Rauschenberger2010ANF,
  title={A non-enzymatic function of 17β-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival},
  author={Katharina Rauschenberger and Katja Sch{\"o}ler and J{\"o}rn Oliver Sass and Sven Wolfgang Sauer and Zdenka Djuric and Cordula Rumig and Nicole I Wolf and Juergen Guenther Okun and Stefan Koelker and Heinz J. Schwarz and C. F. Fischer and Beate Grziwa and Heiko Runz and Astrid N{\"u}mann and Naeem Shafqat and Kathryn L. Kavanagh and G{\"u}nter J. H{\"a}mmerling and Ronald Wanders and Julian P. H. Shield and Udo Wendel and David Stern and Peter P Nawroth and Georg Friedrich Hoffmann and Claus Rainer Bartram and Bernd Arnold and Angelika Bierhaus and Udo C. T. Oppermann and Herbert Steinbeisser and Johannes Zschocke},
  booktitle={EMBO molecular medicine},
  year={2010}
}
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… CONTINUE READING