Clear correlation of genotype with disease phenotype in very-long-chain Acyl-CoA dehydrogenase deficiency

Article Abstract:

In very-long-chain Acyl-CoA dehydrogenase (VLCAD) deficiency there is definite correlation of genotype with disease phenotype. VLCAD catalyzes the first rate-limiting step in mitochondrial fatty acid beta-oxidation. VLCAD deficiency is heterogeneous clinically. There are three major phenotypes, one sever, a childhood form, one also a childhood form, but milder with later onset, and one an adult form. Fifty-eight mutations in 55 unrelated patients have been investigated. They represent all known clinical phenotypes. The mutation types were correlated with the clinical phenotype. In the milder types there was perhaps some residual enzyme activity. In the severe childhood type mutations result in no residual enzyme activity. Results show clear relationships between the mutations and disease severity unlike those for medium-chain acyl-coA dehydrogenase deficiency.

United Kingdom, United States, Denmark, Netherlands, France, Switzerland, Usage, Physiological aspects, Gene mutations, Gene mutation, Genetic aspects, Enzymes, Mitochondria, Mutation (Biology), Mutation, Genetic disorders, Cardiomyopathy, Myocardial diseases, Ketones, Hypoglycemia, Fatty acid metabolism

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Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: A synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer

Article Abstract:

Patient cells, minigenes, and in vitro assays are used to show that a missense mutation in exon 5 of the medium-chain acyl-CoA dehydrogenase (MCAD) gene has caused exon skipping by inactivating a crucial exonic splicing enhancer (ESE). Results reveal a mechanism for dramatic context-dependent effects of single-nucleotide polymorphisms on gene-expression regulation and have shown that the deleterious effects of mutations on splicing should be evaluated in the context of relevant haplotype.

Exon (Molecular genetics), Exons (Molecular genetics), Fatty acid desaturases, Single nucleotide polymorphisms, Report

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Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene ids associated with pontocerebellar hypoplasia

Article Abstract:

The article describes that homozygosity mapping was performed in three patients with pontocerebellar hypoplasia. Results show an intronic mutation in RARS2 that was associated with the production of an abnormally short RARS2 transcript and a marked reduction of the mitochondrial [Trna.sub.Arg] transcript in the patients' fibroblasts.

Messenger RNA, Fibroblasts

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