Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome

Gerald Salen; S. Shefer; A. K. Batta; G. S. Tint; G. Xu; A. Honda; M. Irons; E. R. Elias

Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome

Gerald Salen^*, S. Shefer, A. K. Batta, G. S. Tint, G. Xu, A. Honda, M. Irons, E. R. Elias

^*Corresponding author for this work

Research output: Contribution to journal › Review article › peer-review

8 Scopus citations

Abstract

The Smith-Lemli-Opitz syndrome is caused by an inherited defect in 7- ehydrocholesterol-Δ⁷-reductase, the enzyme that catalyzes the last reaction iN cholesterol biosynthesis, the conversion of 7-dehydrocholesterol to cholesterol. As a result, deficient cholesterol is produced and the precursor 7-dehydrocholesterol and derivatives (8-dehydrocholesterol and 19-nor- 5,7,9(10)-cholestatrien-3β-ol) accumulate. Tissues (especially brain) deprived of cholesterol, or because of the deposited sterol precursors and derivatives, develop abnormally and function poorly. Replacement with dietary cholesterol may help correct the biochemical defects and improve symptoms.

Original language	English (US)
Pages (from-to)	1169-1180
Number of pages	12
Journal	Journal of lipid research
Volume	37
Issue number	6
State	Published - Jun 1996
Externally published	Yes

Keywords

7-dehydrocholesterol
7-dehydrocholesterol-Δ-reductase
8-dehydrocholesterol
lathosterol-5- dehydrogenase

ASJC Scopus subject areas

Biochemistry
Endocrinology
Cell Biology

Cite this

@article{34e6e1bcff38480a896da670dec74b3b,

title = "Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome",

abstract = "The Smith-Lemli-Opitz syndrome is caused by an inherited defect in 7- ehydrocholesterol-Δ7-reductase, the enzyme that catalyzes the last reaction iN cholesterol biosynthesis, the conversion of 7-dehydrocholesterol to cholesterol. As a result, deficient cholesterol is produced and the precursor 7-dehydrocholesterol and derivatives (8-dehydrocholesterol and 19-nor- 5,7,9(10)-cholestatrien-3β-ol) accumulate. Tissues (especially brain) deprived of cholesterol, or because of the deposited sterol precursors and derivatives, develop abnormally and function poorly. Replacement with dietary cholesterol may help correct the biochemical defects and improve symptoms.",

keywords = "7-dehydrocholesterol, 7-dehydrocholesterol-Δ-reductase, 8-dehydrocholesterol, lathosterol-5- dehydrogenase",

author = "Gerald Salen and S. Shefer and Batta, {A. K.} and Tint, {G. S.} and G. Xu and A. Honda and M. Irons and Elias, {E. R.}",

year = "1996",

month = jun,

language = "English (US)",

volume = "37",

pages = "1169--1180",

journal = "Journal of Lipid Research",

issn = "0022-2275",

publisher = "American Society for Biochemistry and Molecular Biology Inc.",

number = "6",

}

TY - JOUR

T1 - Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome

AU - Salen, Gerald

AU - Shefer, S.

AU - Batta, A. K.

AU - Tint, G. S.

AU - Xu, G.

AU - Honda, A.

AU - Irons, M.

AU - Elias, E. R.

PY - 1996/6

Y1 - 1996/6

N2 - The Smith-Lemli-Opitz syndrome is caused by an inherited defect in 7- ehydrocholesterol-Δ7-reductase, the enzyme that catalyzes the last reaction iN cholesterol biosynthesis, the conversion of 7-dehydrocholesterol to cholesterol. As a result, deficient cholesterol is produced and the precursor 7-dehydrocholesterol and derivatives (8-dehydrocholesterol and 19-nor- 5,7,9(10)-cholestatrien-3β-ol) accumulate. Tissues (especially brain) deprived of cholesterol, or because of the deposited sterol precursors and derivatives, develop abnormally and function poorly. Replacement with dietary cholesterol may help correct the biochemical defects and improve symptoms.

AB - The Smith-Lemli-Opitz syndrome is caused by an inherited defect in 7- ehydrocholesterol-Δ7-reductase, the enzyme that catalyzes the last reaction iN cholesterol biosynthesis, the conversion of 7-dehydrocholesterol to cholesterol. As a result, deficient cholesterol is produced and the precursor 7-dehydrocholesterol and derivatives (8-dehydrocholesterol and 19-nor- 5,7,9(10)-cholestatrien-3β-ol) accumulate. Tissues (especially brain) deprived of cholesterol, or because of the deposited sterol precursors and derivatives, develop abnormally and function poorly. Replacement with dietary cholesterol may help correct the biochemical defects and improve symptoms.

KW - 7-dehydrocholesterol

KW - 7-dehydrocholesterol-Δ-reductase

KW - 8-dehydrocholesterol

KW - lathosterol-5- dehydrogenase

UR - http://www.scopus.com/inward/record.url?scp=0029890957&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0029890957&partnerID=8YFLogxK

M3 - Review article

C2 - 8808751

AN - SCOPUS:0029890957

SN - 0022-2275

VL - 37

SP - 1169

EP - 1180

JO - Journal of Lipid Research

JF - Journal of Lipid Research

IS - 6

ER -

Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome

Abstract

Keywords

ASJC Scopus subject areas

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