Mutasi Reseptor LDL Penyebab Hiperkolesterolemia Familier  

Oleh:

Halim, Herman

Jenis: Article from Journal - ilmiah nasional - tidak terakreditasi DIKTI - atma jaya
Dalam koleksi: Majalah Kedokteran Damianus vol. 05 no. 03 (Sep. 2006), page 171-176.
Topik: KOLESTEROL; Familial Hypercholesterolemia; LDL Receptor; Hereditary
Fulltext: D01 v5 n3 p171 kelik2023.pdf (408.25KB)

Ketersediaan

Perpustakaan PKPM Nomor Panggil: M61 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada	Lihat Detail Induk
Perpustakaan FK Nomor Panggil: D01.K.2005-2006.01, D01.K.2006.01 Non-tandon: 2 (dapat dipinjam: 0) Tandon: tidak ada	Lihat Detail Induk

Isi artikel

Familial hypercholesterolemia is a genetic or hereditary disorder of intracellular lipid metabolism, characterized by very high LDL (low density lipoprotein) cholesterol and early cardivascular disease manifestation in families. it is caused by of a mutation int he LDL receptor. The LDL receptor is a cell surface receptor for LDL. LDL is used as carries most of the cholesterol ester in human plasma and around the body, for its utility by cells. If mutation affecting the LDL receptor, cells have fewer LDL receptor on the cell membrane and lacking functional LDL receptors therefore unable to take up LDL. As a result, the amount of circulatinG LDL and cholesterol increases, leasind to enhanced risk of developing atherosclerosis. People with familial hypercholestrolemia have an increased chance of having heart attack at an extremely early age and caused an increased risk of early mortality secondary to heart disease.

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