Nueva mutación heterocigota en el gen de la proteína regulatoria aguda de la esteroideogénesis (StAR) en un paciente 46,XY con hiperplasia adrenal congénita lipoidea / [Novel heterozygous mutation in the steroidogenic acute regulatory protein gene in a 46,XY patient with congenital lipoid adrenal hyperplasia].
Medicina (B.Aires)
; 73(4): 297-302, jul.-ago. 2013.
Article
Dans Es
| LILACS, BINACIS
| ID: biblio-1165166
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AR5.1
Localisation: [{"text": "AR5.1"}]
RESUMO
StAR facilitates cholesterol entry into the mitochondria as part of the transduceosome complex. Recessive mutations in the gen STAR cause classic and nonclassic congenital lipoid adrenal hyperplasia. The aim of the study was to analyze the molecular consequences of a novel heterozygous STAR mutation in a 46,XY patient with ambiguous genitalia and adrenal insufficiency. We found a de novo heterozygous IVS-2A>G STAR mutation and the reported heterozygous p.G146A SF1 polymorphism with normal CYP11A1, FDXR, FDX1, VDAC1 and TSPO genes. RT-PCR and sequencing from patients testicular RNA showed a -exon2 transcript and the wild-type (WT) transcript. Both 37 kDa precursor and 30 kDa mature protein were detected in COS-7 cell transfected with mutant and WT plasmids. Immunofluorescence showed almost no co-localization of mitochondria and mutant protein (delta22-59StAR). Delta22-59StAR activity was 65±13
ABSTRACT
of WT. Cotransfection with WT and delta22-59StAR plasmids reduced WT activity by 62.0
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Indice:
LILACS
Sujet Principal:
Phosphoprotéines
/
Hyperplasie congénitale des surrénales
/
Mutation
langue:
Es
Texte intégral:
Medicina (B.Aires)
Thème du journal:
MEDICINA
Année:
2013
Type:
Article