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Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis
Abstract
Background Autosomal recessive hypercholesterolaemia (ARH) is caused by mutations in a putative adaptor protein called ARH. This recessive disorder, characterised by severe hypercholesterolaemia, xanthomatosis, and premature coronary artery disease, is rare except on the island of Sardinia, Italy. Our aim was to ascertain why ARH is more common on Sardinia than elsewhere. Methods We obtained detailed medical histories, did physical examinations, measured concentrations of lipoproteins, and harvested genomic DNA from 28 Sardinians with ARH from 17 unrelated families. We sequenced the coding regions and consensus splice sites of ARH in probands from these families, and from 40 individuals of non-Sardinian origin who had an autosomal recessive form of hypercholesterolaemia of unknown cause. Findings Two ARH mutations, a frameshift mutation (c432insA) in exon 4 (ARH1) and a nonsense mutation (c65G-->A) in exon 1 (ARH2), were present in all of the 17 unrelated families with ARH. Three of the ARH alleles contained both mutations, as a result of an ancient recombination between ARH1 and ARH2. No regional clustering of the three mutant alleles within Sardinia was apparent. Furthermore, four Italians from the mainland with autosomal recessive hypercholesterolaemia were homozygous for ARH1. Interpretation The small number, high frequency, and dispersed distribution of ARH mutations on Sardinia are consistent with these mutations being ancient and maintained in the Sardinian population…
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Fibroblasts from LDLR-/- patients take up radiolabeled LDL at less than 10% of the rate observed in fibroblasts from normal individuals.
“fibroblasts from LDLR Ϫ/Ϫ patients (homozygous familial hypercholesterolemia) take up radiolabeled LDL at less than 10% of the rate observed in fibroblasts from normal individuals”
From The Modular Adaptor Protein ARH Is Required for Low Density Lipoprotein (LDL) Binding and Internalization but Not for LDL Receptor Clustering in Coated Pits (2004) · cites this paper as [15]
Fibroblasts from most ARH subjects take up and degrade LDL at 50-100% of the normal rate.
“fibroblasts from most ARH subjects take up and degrade LDL at 50 -100% of the normal rate (15).”
From The Modular Adaptor Protein ARH Is Required for Low Density Lipoprotein (LDL) Binding and Internalization but Not for LDL Receptor Clustering in Coated Pits (2004) · cites this paper as [15]
LDLR function is normal or only moderately reduced in fibroblasts from patients with ARH.
“In contrast, LDLR function is normal or only moderately reduced in fibroblasts from patients with this disorder (3”
From ARH Is a Modular Adaptor Protein That Interacts with the LDL Receptor, Clathrin, and AP-2 (2002) · cites this paper as [4]
LDL uptake in fibroblasts from ARH patients is normal or only moderately impaired.
“LDL uptake in fibroblasts from ARH patients is normal or only moderately impaired (4”
From ARH Is a Modular Adaptor Protein That Interacts with the LDL Receptor, Clathrin, and AP-2 (2002) · cites this paper as [4]
Elucidation of the specific role of ARH in the LDLR endocytosis has been hampered by the fact that cultured skin fibroblasts from ARH patients do not show major defects in LDL uptake and degradation.
“Elucidation of the specific role of ARH in the LDLR endocytosis has been hampered by the fact that cultured skin fibroblasts from ARH patients do not show major defects in LDL uptake and degradation (12).”
Hepatic clearance of LDL from plasma is markedly retarded in arh−/− mice as well as in ARH patients.
“On the other hand, our observations concur with the evidence that hepatic clearance of LDL from plasma is markedly retarded in arhϪ/Ϫ mice as well as in ARH patients (12,15).”
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Metadata
- Authors
- Arca, M., Zuliani, G., Wilund, K., Campagna, F., Fellin, R., Bertolini, S., Calandra, S., Ricci, G., Glorioso, N., Maioli, M., Pintus, P., Carru, C., Cossu, F., Cohen, J., & Hobbs, H. H.
- Venue
- The Lancet
- Publisher
- Elsevier BV
- Published
- 2002-03
- Volume
- 359
- Issue
- 9309
- Pages
- 841-847
- ISSN
- 0140-6736
- Cited by
- 136
- References
- 2
- Language
- en
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