Lecithin:cholesterol acyl transferase G30S: Association with atherosclerosis, hypoalphalipoproteinemia and reduced in vivo enzyme activity

Jennifer Rosset; Jian Wang; Bernard M. Wolfe; Peter J. Dolphin; Robert A. Hegele

doi:10.1016/S0009-9120(01)00231-4

Lecithin:cholesterol acyl transferase G30S: Association with atherosclerosis, hypoalphalipoproteinemia and reduced in vivo enzyme activity

Jennifer Rosset, Jian Wang, Bernard M. Wolfe, Peter J. Dolphin, Robert A. Hegele

Medicine

Research output: Contribution to journal › Article › peer-review

11 Citations (Scopus)

Abstract

Objectives: A 69 yr old male was referred for assessment of a very low plasma HDL cholesterol and apolipoprotein AI concentration. At age 65, he had undergone triple vessel coronary bypass graft surgery. He had a strong family history of early coronary heart disease. We analyzed the molecular basis of his clinical and biochemical abnormalities. Design and methods: We used DNA sequencing to determine whether mutations in LCAT were present. We also evaluated plasma biochemistry and LCAT activity. Results: DNA sequencing revealed that the patient was a heterozygote for the G30S mutation in the gene encoding lecithin:cholesteol acyl transferase (LCAT). His plasma was found to have half-normal LCAT activity. Conclusions: The findings in this patient suggest that rare dysfunctional mutations in candidate genes, such as LCAT, can contribute to the spectrum of patients ascertained because of low HDL cholesterol.

Original language	English
Pages (from-to)	381-386
Number of pages	6
Journal	Clinical Biochemistry
Volume	34
Issue number	5
DOIs	https://doi.org/10.1016/S0009-9120(01)00231-4
Publication status	Published - 2001

Bibliographical note

Funding Information:
Supported by the Blackburn Group, the Heart and Stroke Foundation of Ontario (#3628) and the Medical Research Council of Canada (MA-13430 and MT5999). Dr. Hegele is a Career Investigator of the Heart and Stroke Foundation of Ontario (CI-2979) and holds a Canada Research Chair in Human Genetics. Ms. Rosset was supported by a University of Western Ontario Summer Research Training Program Award. Ms. Pearl Campbell provided excellent technical assistance.

ASJC Scopus Subject Areas

Clinical Biochemistry

PubMed: MeSH publication types

Journal Article
Research Support, Non-U.S. Gov't

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10.1016/S0009-9120(01)00231-4

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title = "Lecithin:cholesterol acyl transferase G30S: Association with atherosclerosis, hypoalphalipoproteinemia and reduced in vivo enzyme activity",

abstract = "Objectives: A 69 yr old male was referred for assessment of a very low plasma HDL cholesterol and apolipoprotein AI concentration. At age 65, he had undergone triple vessel coronary bypass graft surgery. He had a strong family history of early coronary heart disease. We analyzed the molecular basis of his clinical and biochemical abnormalities. Design and methods: We used DNA sequencing to determine whether mutations in LCAT were present. We also evaluated plasma biochemistry and LCAT activity. Results: DNA sequencing revealed that the patient was a heterozygote for the G30S mutation in the gene encoding lecithin:cholesteol acyl transferase (LCAT). His plasma was found to have half-normal LCAT activity. Conclusions: The findings in this patient suggest that rare dysfunctional mutations in candidate genes, such as LCAT, can contribute to the spectrum of patients ascertained because of low HDL cholesterol.",

author = "Jennifer Rosset and Jian Wang and Wolfe, {Bernard M.} and Dolphin, {Peter J.} and Hegele, {Robert A.}",

note = "Funding Information: Supported by the Blackburn Group, the Heart and Stroke Foundation of Ontario (#3628) and the Medical Research Council of Canada (MA-13430 and MT5999). Dr. Hegele is a Career Investigator of the Heart and Stroke Foundation of Ontario (CI-2979) and holds a Canada Research Chair in Human Genetics. Ms. Rosset was supported by a University of Western Ontario Summer Research Training Program Award. Ms. Pearl Campbell provided excellent technical assistance. ",

year = "2001",

doi = "10.1016/S0009-9120(01)00231-4",

language = "English",

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pages = "381--386",

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T1 - Lecithin:cholesterol acyl transferase G30S

T2 - Association with atherosclerosis, hypoalphalipoproteinemia and reduced in vivo enzyme activity

AU - Rosset, Jennifer

AU - Wang, Jian

AU - Wolfe, Bernard M.

AU - Dolphin, Peter J.

AU - Hegele, Robert A.

N1 - Funding Information: Supported by the Blackburn Group, the Heart and Stroke Foundation of Ontario (#3628) and the Medical Research Council of Canada (MA-13430 and MT5999). Dr. Hegele is a Career Investigator of the Heart and Stroke Foundation of Ontario (CI-2979) and holds a Canada Research Chair in Human Genetics. Ms. Rosset was supported by a University of Western Ontario Summer Research Training Program Award. Ms. Pearl Campbell provided excellent technical assistance.

PY - 2001

Y1 - 2001

N2 - Objectives: A 69 yr old male was referred for assessment of a very low plasma HDL cholesterol and apolipoprotein AI concentration. At age 65, he had undergone triple vessel coronary bypass graft surgery. He had a strong family history of early coronary heart disease. We analyzed the molecular basis of his clinical and biochemical abnormalities. Design and methods: We used DNA sequencing to determine whether mutations in LCAT were present. We also evaluated plasma biochemistry and LCAT activity. Results: DNA sequencing revealed that the patient was a heterozygote for the G30S mutation in the gene encoding lecithin:cholesteol acyl transferase (LCAT). His plasma was found to have half-normal LCAT activity. Conclusions: The findings in this patient suggest that rare dysfunctional mutations in candidate genes, such as LCAT, can contribute to the spectrum of patients ascertained because of low HDL cholesterol.

AB - Objectives: A 69 yr old male was referred for assessment of a very low plasma HDL cholesterol and apolipoprotein AI concentration. At age 65, he had undergone triple vessel coronary bypass graft surgery. He had a strong family history of early coronary heart disease. We analyzed the molecular basis of his clinical and biochemical abnormalities. Design and methods: We used DNA sequencing to determine whether mutations in LCAT were present. We also evaluated plasma biochemistry and LCAT activity. Results: DNA sequencing revealed that the patient was a heterozygote for the G30S mutation in the gene encoding lecithin:cholesteol acyl transferase (LCAT). His plasma was found to have half-normal LCAT activity. Conclusions: The findings in this patient suggest that rare dysfunctional mutations in candidate genes, such as LCAT, can contribute to the spectrum of patients ascertained because of low HDL cholesterol.

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Lecithin:cholesterol acyl transferase G30S: Association with atherosclerosis, hypoalphalipoproteinemia and reduced in vivo enzyme activity

Abstract

Bibliographical note

ASJC Scopus Subject Areas

PubMed: MeSH publication types

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