Human deafness dystonia syndrome is a mitochondrial disease.

Abstract	The human deafness dystonia syndrome results from the mutation of a protein (DDP) of unknown function. We show now that DDP is a mitochondrial protein and similar to five small proteins (Tim8p, Tim9p, Tim10p, Tim12p, and Tim13p) of the yeast mitochondrial intermembrane space. Tim9p, Tim10p, and Tim12p mediate the import of metabolite transporters from the cytoplasm into the mitochondrial inner membrane and interact structurally and functionally with Tim8p and Tim13p. DDP is most similar to Tim8p. Tim8p exists as a soluble 70-kDa complex with Tim13p and Tim9p, and deletion of Tim8p is synthetically lethal with a conditional mutation in Tim10p. The deafness dystonia syndrome thus is a novel type of mitochondrial disease that probably is caused by a defective mitochondrial protein-import system.
Authors	C M Koehler, D Leuenberger, S Merchant, A Renold, T Junne, G Schatz
Journal	Proceedings of the National Academy of Sciences of the United States of America (Proc Natl Acad Sci U S A) Vol. 96 Issue 5 Pg. 2141-6 (Mar 02 1999) ISSN: 0027-8424 [Print] United States
PMID	10051608 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, Non-P.H.S.)
Chemical References	Carrier Proteins DDP2 protein, E coli DNA-Binding Proteins Escherichia coli Proteins Fungal Proteins Membrane Transport Proteins Mitochondrial Precursor Protein Import Complex Proteins Proteins Recombinant Proteins TIMM8A protein, human
Topics	Amino Acid Sequence Carrier Proteins (chemistry, genetics) DNA-Binding Proteins (chemistry, genetics) Deafness (genetics) Dystonia (genetics) Escherichia coli Proteins Fungal Proteins (chemistry, genetics) Humans Intracellular Membranes (metabolism) Membrane Transport Proteins Mitochondria (metabolism) Mitochondrial Myopathies (genetics) Mitochondrial Precursor Protein Import Complex Proteins Molecular Sequence Data Protein Biosynthesis Proteins (chemistry, genetics) Recombinant Proteins (biosynthesis, chemistry) Saccharomyces cerevisiae (genetics) Sequence Alignment Sequence Homology, Amino Acid Submitochondrial Particles (metabolism) Syndrome

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.

Realize the full power of the drug-disease research graph!