https://transhumanist.ru/index.php?action=history&feed=atom&title=TMEM43TMEM43 - История изменений2026-11-08T12:56:20ZИстория изменений этой страницы в викиMediaWiki 1.43.6https://transhumanist.ru/index.php?title=TMEM43&diff=5228&oldid=prevOdysseusBot: Новая страница: «Transmembrane protein 43 (Protein LUMA) [UNQ2564/PRO6244] ==Publications== {{medline-entry |title=Arrhythmogenic right ventricular cardiomyopathy type 5 is a fu...»2021-05-12T13:35:04Z<p>Новая страница: «Transmembrane protein 43 (Protein LUMA) [UNQ2564/PRO6244] ==Publications== {{medline-entry |title=Arrhythmogenic right ventricular cardiomyopathy type 5 is a fu...»</p>
<p><b>Новая страница</b></p><div>Transmembrane protein 43 (Protein LUMA) [UNQ2564/PRO6244]<br />
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==Publications==<br />
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{{medline-entry<br />
|title=Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the [[TMEM43]] gene.<br />
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/18313022<br />
|abstract=Autosomal-dominant arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) causes sudden cardiac death and is characterized by clinical and genetic heterogeneity. Fifteen unrelated ARVC families with a disease-associated haplotype on chromosome 3p (ARVD5) were ascertained from a genetically isolated population. Identification of key recombination events reduced the disease region to a 2.36 Mb interval containing 20 annotated genes. Bidirectional resequencing showed one rare variant in transmembrane protein 43 ([[TMEM43]] 1073C-->T, S358L), was carried on all recombinant ARVD5 ancestral haplotypes from affected subjects and not found in population controls. The mutation occurs in a highly conserved transmembrane domain of [[TMEM43]] and is predicted to be deleterious. Clinical outcomes in 257 affected and 151 unaffected subjects were compared, and penetrance was determined. We concluded that ARVC at locus ARVD5 is a lethal, fully penetrant, sex-influenced morbid disorder. Median life expectancy was 41 years in affected males compared to 71 years in affected females (relative risk 6.8, 95% CI 1.3-10.9). Heart failure was a late manifestation in survivors. Although little is known about the function of the [[TMEM43]] gene, it contains a response element for PPAR gamma (an adipogenic transcription factor), which may explain the fibrofatty replacement of the myocardium, a characteristic pathological finding in ARVC.<br />
|mesh-terms=* Adolescent<br />
* Adult<br />
* Aged<br />
* Aged, 80 and over<br />
* Amino Acid Sequence<br />
* Arrhythmogenic Right Ventricular Dysplasia<br />
* Child<br />
* Chromosomes, Human, Pair 3<br />
* DNA Mutational Analysis<br />
* Female<br />
* Genetic Testing<br />
* Heart Failure<br />
* Humans<br />
* Life Expectancy<br />
* Male<br />
* Membrane Proteins<br />
* Middle Aged<br />
* Molecular Sequence Data<br />
* Mutation, Missense<br />
* Myocardium<br />
* Pedigree<br />
* Penetrance<br />
* Physical Chromosome Mapping<br />
* Protein Conformation<br />
* Sex Factors<br />
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|full-text-url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2427209<br />
}}</div>OdysseusBot