In a recent study published in the journal Nature Communications , researchers discovered a family with a germline-encoded telomere template sequence mutation (TTAGGT) in telomerase, which results in a non-canonical telomere sequence carried over at least one generation. Studies report that the telomere sequence, TTAGGG, is constant across all vertebrates and serves a critical function in inhibiting the deoxyribonucleic acid (DNA) damage response by attaching to a group of proteins known as shelterin. Changes in telomere sequence decrease shelterin binding, cause DNA damage, and are toxic to cells.
Study: A persistent variant telomere sequence in a human pedigree . Image Credit: Lightspring / Shutterstock In the present study, researchers uncovered a novel heterozygous mutation in the TERC of an IPF patient that encodes a telomere sequence. This variation enabled the patient to remain illness-free for over four decades and was inherited.
Recently, researchers analyzed IPF patients and discovered some with uncommon mutations in TERC and TERT. An individual tested showed heterozygous-type C>A transversions in the TR template region. The medical history included premature graying and the diagnosis of idiopathic pulmonary fibrosis (IPF) at an early age of 43 years.
To verify r.50C>A genetic variant-comprising telomerase activity in vivo, the researchers analyzed the proband's and his son's whole genome sequencing (WGS) results to investigate variant sequence integration into telo.
