Exome Sequencing, ANGPTL3 Mutations, and Familial Combined Hypolipidemia  

Oleh:

Musunuru, Kiran ; Pirruccello, James P. ; Do, Ron ; Peloso, Gina M.

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: The New England Journal of Medicine (keterangan: ada di Proquest) vol. 363 no. 23 (Dec. 2010), page 2220-2227.
Topik: Low-Density Lipoprotein; LDL; High-Density Lipoprotein; HDL; Cholesterol; Triglycerides

Ketersediaan

Perpustakaan FK Nomor Panggil: N08.K.2010.01 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

We sequenced all protein-coding regions of the genome (the “exome”) in two family members with combined hypolipidemia, marked by extremely low plasma levels of low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, and triglycerides. These two participants were compound heterozygotes for two distinct nonsense mutations in ANGPTL3 (encoding the angiopoietin-like 3 protein). ANGPTL3 has been reported to inhibit lipoprotein lipase and endothelial lipase, thereby increasing plasma triglyceride and HDL cholesterol levels in rodents. Our finding of ANGPTL3 mutations highlights a role for the gene in LDL cholesterol metabolism in humans and shows the usefulness of exome sequencing for identification of novel genetic causes of inherited disorders.

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