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Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.

Abstract：

: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 (UPR(mt)) 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.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Jenkinson EM,Rehman AU,Walsh T,Clayton-Smith J,Lee K,Morell RJ,Drummond MC,Khan SN,Naeem MA,Rauf B,Billington N,Schultz JM,Urquhart JE,Lee MK,Berry A,Hanley NA,Mehta S,Cilliers D,Clayton PE,Kingston H,Smith MJ,W

doi

10.1016/j.ajhg.2013.02.013

subject

Has Abstract

pub_date

2013-04-04 00:00:00

pages

605-13

issue

4

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(13)00108-0

journal_volume

92

pub_type

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