Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A

Article Abstract:

A study is conducted to characterize functional effects of the intronic polymorphism on alternative splicing of SCN1A and to explore the potential for modulating the drug response in the pharmacologically unfavorable genotype by identification of a splice modifier acting on SCN1A. The findings of the study emphasize the emerging role of genetic polymorphisms in modulation of drug effect and illustrate the alternative splicing as a potential therapeutic target.

United Kingdom, Pharmaceutical Preparation Manufacturing, Pharmaceutical preparations, Anticonvulsant Preparations, Gene expression, Genetic polymorphisms, Anticonvulsants

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Imprinting at the SMPD1 locus: Implications for acid sphingomyelinase-deficient Niemann-Pick disease

Article Abstract:

A study to show that the gene encoding acid sphingomyelinase (ASM) (SMPD1) is paternally imprinted and that differential expression of the mutant alleles in patients with ASM-deficient Niemann-Pick disease (NPD) and in carriers influences the disease phenotype is presented. DNA sequencing confirmed that an individual ASM deficient NPD carried a single SMPD1 mutation and that this mutant allele was preferentially expressed.

New York, Health aspects, Risk factors, Niemann-Pick disease, Sphingolipidoses

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Competency for nonsense-mediated reduction in collagen X mRNA is specified by the 3' UTR and corresponds to the position of mutations in Schmid metaphyseal chondrodysplasia

Article Abstract:

Several studies are conducted to explain the impact of the introduction of nonsense-mediated mutations on the functioning of the model mouse. The nonsense-mediated reduction in collagen X mRNA is found to correspond to the position of mutations in Schmid metaphyseal chondrodysplasia and is generally specified by the 3'UTR.

Causes of, Gene mutations, Gene mutation, Genetic aspects, Exon (Molecular genetics), Exons (Molecular genetics), Dysostosis

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