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Jenkinson, Emma M.; Rehman, Atteeq U.; Walsh, Tom; Clayton-Smith, Jill; Lee, Kwanghyuk; Morell, Robert J.; Drummond, Meghan C.; Khan, Shaheen N.; Naeem, Muhammad Asif; Rauf, Bushra; Billington, Neil; Schultz, Julie M.; Urquhart, Jill E.; Lee, Ming K.; Berry, Andrew; Hanley, Neil A.; Mehta, Sarju; Cilliers, Deirdre; Clayton, Peter E.; Kingston, Helen; Smith, Miriam J.; Warner, Thomas T.; Black, Graeme C.; Trump, Dorothy; Davis, Julian R.E.; Ahmad, Wasim; Leal, Suzanne M.; Riazuddin, Sheikh; King, Mary-Claire; Friedman, Thomas B.; Newman, William G.
American journal of human genetics, 04/2013, Letnik: 92, Številka: 4Journal Article
Perrault syndrome is a genetically and clinically heterogeneous autosomal-recessive condition characterized by sensorineural hearing loss and ovarian failure. By a combination of linkage analysis, homozygosity mapping, and exome sequencing in three families, we identified mutations in CLPP as the likely cause of this phenotype. In each family, affected individuals were homozygous for a different pathogenic CLPP allele: c.433A>C (p.Thr145Pro), c.440G>C (p.Cys147Ser), or an experimentally demonstrated splice-donor-site mutation, c.270+4A>G. CLPP, a component of a mitochondrial ATP-dependent proteolytic complex, is a highly conserved endopeptidase encoded by CLPP and forms an element of the evolutionarily ancient mitochondrial unfolded-protein response (UPRmt) stress signaling pathway. Crystal-structure modeling suggests that both substitutions would alter the structure of the CLPP barrel chamber that captures unfolded proteins and exposes them to proteolysis. Together with the previous identification of mutations in HARS2, encoding mitochondrial histidyl-tRNA synthetase, mutations in CLPP expose dysfunction of mitochondrial protein homeostasis as a cause of Perrault syndrome.
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