Intramuscular Administration of AAV1-Lipoprotein Lipase S447X Lowers Triglycerides in Lipoprotein Lipase–Deficient Patients
نویسندگان
چکیده
منابع مشابه
Gene therapy with lipoprotein lipase variant S447X.
Variant S447X To the Editor: Ross et al recently reported a dazzling series of in vivo experiments1 showing reversal of abnormal biochemical phenotypes in Lpl / mice through adenoviral-mediated gene transfer of the socalled “gain-of-function” S447X prematurely truncated human variant of lipoprotein lipase (LPL or LIPD). Furthermore, all readouts in lipase-deficient mice treated with this human ...
متن کاملLipoprotein lipase S447X: a naturally occurring gain-of-function mutation.
Lipoprotein lipase (LPL) hydrolyzes triglycerides in the circulation and promotes the hepatic uptake of remnant lipoproteins. Since the gene was cloned in 1989, more than 100 LPL gene mutations have been identified, the majority of which cause loss of enzymatic function. In contrast to this, the naturally occurring LPL(S447X) variant is associated with increased lipolytic function and an anti-a...
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Some or most of the turnover of lipoprotein lipase (LPL) occurs by dissociation from vascular endothelial sites in extrahepatic tissues and further degradation in the liver. Heparin greatly enhances this dissociation and delays but does not abolish uptake in the liver, raising the possibility that heparin could lead to accelerated catabolism of functional LPL. To investigate this, we determined...
متن کاملThe role of clearing-factor lipase (lipoprotein lipase) in the transport of plasma triglycerides.
The enzyme clearing-factor lipase, or lipoprotein lipase, is responsible for the removal of most of the plasma triglycerides from the bloodstream (Robinson, 1963). The main carriers of such triglycerides are the chylomicrons and the verylowdensity lipoproteins and these complexes are believed to be first sequestered by the enzyme at the lumen surfaces of the capillary endothelial cells of the e...
متن کاملLipoprotein Lipase (LPL) Gene Mutation: A First Report in Children
Genetic hyperchylomicronemia is a rare autosomal recessive disorder of lipoprotein metabolism estimated to affect approximately one per million individuals. We report a case with a rare mutation identified. It’s a genetic chylomicronemia in a Moroccan newborn baby, with massive hypertriglyceridemia and clinical signs of acute pancreatitis. She was a newborn female, first-degree of consanguineou...
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ژورنال
عنوان ژورنال: Arteriosclerosis, Thrombosis, and Vascular Biology
سال: 2008
ISSN: 1079-5642,1524-4636
DOI: 10.1161/atvbaha.108.175620