Ashavaid, T. F. ; Altaf, A. K. ; Nair, K. G. (2000) Molecular basis of familial hypercholesterolemia: an Indian experience Indian Journal of Clinical Biochemistry, 15 (1). pp. 11-19. ISSN 0970-1915
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Official URL: http://www.springerlink.com/content/332131117056j5...
Related URL: http://dx.doi.org/10.1007/BF02867540
Abstract
Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by a multitude of low-density lipoprotein (LDL) receptor gene mutations. The LDL receptor is a cell surface trans-membrane protein that mediates the uptake & lysosomal degradation of plasma LDI., thereby providing cholesterol to cells. Affected individuals have elevated plasma levels of LDL, which causes premature coronary atherosclerosis. FH has an estimated worldwide prevalence of 0.2%. In some subpopulations there is an increased frequency of FH and specific LDL receptor mutations are found to be common due to 'founder gene effect'. Overall, more than 300 naturally occurring LDL receptor mutations have been described. To data upto ten LDL receptor gene mutations have been identified in Indians in South Africa, suggesting increased incidence of FH among Indians. Most mutations have occurred at CpG dinucleotide, a mutational hotspot in human genetic disease. In our study in 25 hypercholesterolemic subjects we have identified two novel insertion mutations in two patients. But the mutations underlying FH are still undefined in the majority of cases. Mutational heterogeneity on the other-hand has complicated disease diagnosis at DNA level. These findings warrant application of a generalized mutation screening method in search for new LDL receptor gene defects.
Item Type: | Article |
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Source: | Copyright of this article belongs to Association of Clinical Biochemistry of India. |
Keywords: | Familial Hypercholesterolemia (FH); LDL Receptor; Mutations; Atherosclerosis; DNA Diagnosis |
ID Code: | 35738 |
Deposited On: | 09 Apr 2011 10:19 |
Last Modified: | 09 Apr 2011 10:19 |
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