Abstract
Congenital lipoid adrenal hyperplasia is an autosomal recessive disorder that is characterized by impaired synthesis of all adrenal and gonadal steroid hormones. In three unrelated individuals with this disorder, steroidogenic acute regulatory protein, which enhances the mitochondrial conversion of cholesterol into pregnenolone, was mutated and nonfunctional, providing genetic evidence that this protein is indispensable normal adrenal and gonadal steroidogenesis.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adrenal Glands / metabolism*
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Adrenal Hyperplasia, Congenital / metabolism
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Amino Acid Sequence
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Animals
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Base Sequence
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Biological Transport / physiology
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Cell Line
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Cholesterol / metabolism*
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Female
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Gonads / metabolism*
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Haplorhini
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Hormones / biosynthesis*
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Humans
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Male
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Mitochondria / metabolism
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Molecular Sequence Data
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Phosphoproteins / genetics
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Phosphoproteins / physiology*
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Point Mutation
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Steroids / biosynthesis*
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Transfection
Substances
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Hormones
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Phosphoproteins
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Steroids
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steroidogenic acute regulatory protein
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Cholesterol