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Rare apolipoprotein E variant identified in a patient with type III hyperlipidaemia
P R Wenham1, I F McDowell, V M Hodges
1Department of Clinical Biochemistry, Western General Hospital, Edinburgh, UK.
Atherosclerosis
|March 1, 1993
Summary
A rare apolipoprotein E variant linked to Type III hyperlipidaemia was identified in an Irish family. This genetic finding offers new insights into the disease
Area of Science:
- Genetics
- Molecular Biology
- Biochemistry
Background:
- Type III hyperlipidaemia is a genetic disorder affecting lipid metabolism.
- Apolipoprotein E (ApoE) plays a crucial role in lipoprotein clearance.
- Specific ApoE genotypes are associated with increased risk of hyperlipidaemia.
Observation:
- A rare apolipoprotein E variant was identified in an Irish female with Type III hyperlipidaemia.
- Isoelectric focusing revealed an E2E1 phenotype.
- Sequence analysis pinpointed a G to A transition at nucleotide 3791 in the ApoE gene.
Findings:
- The identified point mutation results in a glycine to aspartic acid substitution at position 127.
- Restriction digestion with TaqI confirmed the novel mutation site.
- This apolipoprotein E variant appears to be recessively inherited concerning Type III hyperlipidaemia.
Implications:
- This is the first reported instance of this specific ApoE variant in the British Isles.
- The variant may be more potent in causing hyperlipidaemia than the common epsilon 2 allele.
- Type III hyperlipidaemia associated with this variant responds to dietary changes and gemfibrozil treatment.