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Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia
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Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia
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Journal Article
Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia
2007
Overview
This is an issue edsumm for 24. Identification of the Palaeocene/Eocene thermal maximum in a marine sedimentary sequence shows that sea surface temperatures near the North Pole increased from roughly 18 degrees Celsius to over 23 degrees Celsius — such warm values imply the absence of ice and thus exclude the influence of ice-albedo feedbacks on this Arctic warming.
Hypertriglyceridemia is a hallmark of many disorders, including metabolic syndrome, diabetes, atherosclerosis and obesity
1
,
2
,
3
. A well-known cause is the deficiency of lipoprotein lipase (LPL), a key enzyme in plasma triglyceride hydrolysis
4
,
5
,
6
. Mice carrying the combined lipase deficiency (
cld
) mutation show severe hypertriglyceridemia owing to a decrease in the activity of LPL and a related enzyme, hepatic lipase (HL)
7
,
8
,
9
, caused by impaired maturation of nascent LPL and hepatic lipase polypeptides in the endoplasmic reticulum (ER)
10
. Here we identify the gene containing the
cld
mutation as
Tmem112
and rename it
Lmf1
(Lipase maturation factor 1).
Lmf1
encodes a transmembrane protein with an evolutionarily conserved domain of unknown function that localizes to the ER. A human subject homozygous for a deleterious mutation in
LMF1
also shows combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders. Thus, through its profound effect on lipase activity,
LMF1
emerges as an important candidate gene in hypertriglyceridemia
4
,
11
,
12
.
Publisher
Nature Publishing Group US,Nature Publishing Group
Subject
/ Animal Genetics and Genomics
/ Animals
/ Biological and medical sciences
/ Biomedical and Life Sciences
/ Complications and side effects
/ Disorders of blood lipids. Hyperlipoproteinemia
/ Enzymes
/ Fundamental and applied biological sciences. Psychology
/ Genes
/ Genetic Predisposition to Disease
/ Genetics of eukaryotes. Biological and molecular evolution
/ Humans
/ Hypertriglyceridemia - genetics
/ letter
/ Lipoprotein Lipase - chemistry
/ Lipoprotein Lipase - genetics
/ Mice
/ Mutation
/ Obesity
