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Biochimica del cervello

Epigenetic inheritance of telomere length obscures identification of causative PARN locus
Scritto da Journal of Medical Genetics current issue   

Mean leucocyte telomere length (LTL) has been associated with cancer and several age-associated diseases. Common variants within or near genes known to be involved in telomere biology (TERT, TERC, RTEL1) have been associated with mean LTLs in genome-wide association studies (GWAS).1 2 Rare variants in these genes have also been found to cosegregate with short telomere lengths and lung disease in familial pulmonary fibrosis kindreds.3–5 Rare variants in an additional telomere-related gene, PARN (polyadenylation-specific ribonuclease deadenylation nuclease), were recently found by exome sequencing older adults with familial pulmonary fibrosis3 as well as patients with dyskeratosis congenita, a disorder of telomere biology generally affecting children.6 7 PARN has not been identified by GWAS studies as a contributor of human telomere length regulation. Here we determine if the PARN locus could have been identified...
Fonte: Journal of Medical Genetics current issue


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