Abstract:
BACKGROUND:The steroidogenic acute regulatory protein (StAR) is essential for steroidogenesis by mediating cholesterol transfer into mitochondria. Inactivating StAR mutations cause lipoid congenital adrenal hyperplasia. OBJECTIVE AND METHODS:To identify causative mutations in a patient presenting with adrenal failure during early infancy. The objective was to study the functional and structural consequences of the novel StAR mutation p.Trp147Arg in a Turkish patient detected in compound heterozygosity with the p.Glu169Lys mutation. RESULTS:Transient in vitro expression of the mutant proteins together with P450 side-chain cleavage enzyme, adrenodoxin, and adrenodoxin reductase yielded severely diminished cholesterol conversion of the p.Trp147Arg mutant. The previously described p.Glu169Lys mutant led to significantly lower cholesterol conversion than wild-type StAR protein. As derived from three-dimensional protein modeling, the residue W147 is stabilizing the C-terminal helix in a closed conformation hereby acting as gatekeeper of the ligand cavity of StAR. CONCLUSIONS:The novel mutation p.Trp147Arg causes primary adrenal insufficiency and complete sex reversal in the 46,XY patient. Clinical disease, in vitro studies and three-dimensional protein modeling of the mutation p.Trp147Arg underscore the relevance of this highly conserved residue for StAR protein function.
journal_name
Horm Res Paediatrjournal_title
Hormone research in paediatricsauthors
Yüksel B,Kulle AE,Gürbüz F,Welzel M,Kotan D,Mengen E,Holterhus PM,Topaloğlu AK,Grötzinger J,Riepe FGdoi
10.1159/000354086subject
Has Abstractpub_date
2013-01-01 00:00:00pages
163-9issue
3eissn
1663-2818issn
1663-2826pii
000354086journal_volume
80pub_type
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