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ABCC6 gene polymorphism associated with variation in plasma lipoproteins
1Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, London, ON, Canada.
Journal of Human Genetics
|January 5, 2002
Summary
Mutations in the ABCC6 gene cause pseudoxanthoma elasticum (PXE) and may influence lipid levels. This study identified a novel ABCC6 mutation in a PXE patient with dyslipidemia, suggesting ABCC6
Area of Science:
- Genetics
- Biochemistry
- Molecular Biology
Background:
- The ATP cassette-binding (ABC) gene superfamily plays a crucial role in cellular lipid transport.
- ABCA1 mutations impact high-density lipoprotein (HDL) cholesterol levels.
- ABCC6 mutations are linked to pseudoxanthoma elasticum (PXE).
Observation:
- A patient with PXE presented with severe, treatment-refractory hyperlipoproteinemia and hypoalphalipoproteinemia.
- Genomic DNA sequencing was performed to identify the causative mutation in the ABCC6 gene.
- The study investigated genetic variations within the ABCC6 gene and its potential pseudogene.
Findings:
- A novel nonsense mutation (R>X1164) in the ABCC6 gene was identified in the PXE patient.
- Common amino acid and silent nucleotide variants in ABCC6 were cataloged with varying ethnic allele frequencies.
- Evidence suggests the existence of an ABCC6 pseudogene.
- The ABCC6 R>Q1268 variant showed an association with plasma triglyceride and HDL cholesterol levels.
Implications:
- ABCC6 mutations are implicated in both PXE and dyslipidemia.
- The ABCC6 gene may be a significant determinant of plasma lipoprotein levels.
- Understanding ABCC6 variants can aid in diagnosing and managing PXE and related lipid disorders.