[Lecithin: cholesterol acyltransferase (LCAT)--the genetic analysis of familial LCAT deficiency and fish eye disease].
Lecithin: cholesterol acyltransferase (LCAT) is the enzyme that catalyze the esterification of free cholesterol in plasma proteins. The functional abnormalities of LCAT are known to cause two diseases characterized by severe corneal opacity; familial LCAT deficiency that is accompanied with anemia and frequently, though not invariably, renal failure, and fish eye disease (FED) without any other severe symptoms. Notably, it has been shown that the clinical symptoms and biochemical features are highly variable in each patient with the diseases. Recent genetic studies on the cases of LCAT deficiency or FED revealed both diseases to be caused by respective mutations of the LCAT gene. These findings suggest the abnormal or defective LCAT by each gene mutation underlies the heterogeneity in the biochemical and, possibly, clinical characteristics observed in LCAT deficiency and FED.
Bujo
H
H
2nd Dept. of Internal Medicine, Chiba Univ. School of Medicine.
Saito
Y
Y
D003318:Corneal Opacity / Q000209:etiology*; D018740:Genetic Heterogeneity; D006801:Humans; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000150:complications / Q000235:genetics*; D009154:Mutation; D007862:Phosphatidylcholine-Sterol O-Acyltransferase / Q000737:chemistry / Q000235:genetics*
D007862:Phosphatidylcholine-Sterol O-Acyltransferase