Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): How does G at position +3 result in aberrant splicing?

Article Abstract:

Aberrant splicing and congenital end-plate acetylcholinesterase deficiency, a result of a nonsense mutation, are discussed. An A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ) and the position of G are factors and the nature of the involvement has been investigated. It is concluded that with G at +3, normal splicing, which usually depends on the concordance that residues at +4 and +6 have with U1 small nuclear RNA (snRNA), goes on, but that other cis-acting factors may be important to keep splicing normal. A disabling myasthenic syndrome is related to congenital end-plate acetylcholinesterase (AChE) deficiency (CEAD), which comes from COLQ gene defects.

Statistical Data Included, Neuromuscular diseases, Neural transmission, Synaptic transmission, Acetylcholinesterase

---

Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias

Article Abstract:

Researchers have discovered a causal link between isoform mutation and phenotype in determining inherited cardiac arrhythmia syndrome. Using a mammalian expression system, specific mutations were identified that suppress dominant-negative truncated KvLQT1 effects. Carriers of these mutations may still exhibit cardiac current repolarization if non-truncated KvLQT1 protein is unaffected by the truncated isoform.

Proteins, Arrhythmia

---

Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (type Ic)

Article Abstract:

Research indicates that a collagen gene is responsible for congenital myasthenic syndrome (CMS). A mutation in COLQ, an acetylcholinesterase-associated collagen gene, was linked with CMS along with end-plate acetylcholinesterase deficiency. The disease, a rare autosomal recessive condition, is characterized by morphological abnormalities and generalized weakness, making detection and prevention critical.

Gene mutations, Gene mutation, Collagen diseases

Similar abstracts:

• Abstracts: Oxygen-dependent low-temperature delta12(n6)-desaturase induction and alteration of fatty acid composition in Acanthamoeba castellanii
• Abstracts: Genetic characterization and cloning of Mothers against dpp, a gene required for decapentaplegic function in Drosophila melanogaster
• Abstracts: Isolation of an IHF-deficient mutant of a Pseudomonas aeruginosa mucoid isolate and evaluation of the role of IHF in algD gene expression
• Abstracts: Cloning and transcriptional analysis of the nifUHDK genes of Trichodesmium sp. IMS101 reveals stable nifD, nifDK and nifK transcripts
• Abstracts: Histone acetyltransferase activity of yeast Gcn5p is required for the activation of target genes in vivo. Telomere-mediated plasmid segregation in Saccharomyces cerevisiae involves gene products required for transcriptional repression at silencers and telomeres

This website is not affiliated with document authors or copyright owners. This page is provided for informational purposes only. Unintentional errors are possible.