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Variable expression of hypercholesterolemia in Apolipoprotein E2* (Arg136 --> Cys) heterozygotes.
J A Hubácek1, J Pitha, P Stávek
1Laboratory of Atherosclerosis Research, Institute for Clinical and Experimental Medicine, Prague, Czech Republic. jaroslav.hubacek@medicon.cz
Physiological Research
|October 24, 2000
Summary
A rare apo E gene mutation (Arg136 --> Cys) was identified in a family. This mutation was linked to hypercholesterolemia in some members, but its direct role in hyperlipoproteinemia requires further investigation.
Area of Science:
- Genetics
- Biochemistry
- Molecular Biology
Background:
- Apolipoprotein E (apo E) gene polymorphism is crucial for lipid metabolism.
- Population screening often involves polymerase chain reaction (PCR) and restriction fragment analysis.
Purpose of the Study:
- To identify and characterize a rare apo E gene mutation.
- To investigate the association of this mutation with lipid levels and body mass index (BMI) within a family.
Main Methods:
- Polymerase chain reaction (PCR) and restriction analysis for apo E gene polymorphism screening.
- DNA sequencing to identify specific mutations.
- Lipoprotein parameter analysis and BMI assessment in family members.
Main Results:
- A novel mutation, apo E2* (Arg136 --> Cys), resulting from a C-->T substitution, was identified.
- The proband and her siblings exhibited hypercholesterolemia and high BMI, carrying the mutant allele.
- The proband's son, also carrying the mutant allele, had normal lipid levels and BMI.
Conclusions:
- The identified apo E2* (Arg136 --> Cys) mutation is present in a family with elevated lipid levels.
- The direct link between this specific mutation and hyperlipoproteinemia remains unconfirmed.
- Other genetic and environmental factors likely play a significant role in the development of lipid metabolism disorders associated with this mutation.