Understanding the Human RECQ5 Helicase—Connecting the Dots from DNA to Clinics DOI Creative Commons

Chiefe Mo,

Yukari Shiozaki, Kenneth Omabe

et al.

Cells, Journal Year: 2023, Volume and Issue: 12(16), P. 2037 - 2037

Published: Aug. 10, 2023

RECQ5, a member of the conserved RECQ helicase family, is sole human homolog that has not been linked to hereditary developmental syndrome. Nonetheless, dysregulation RECQ5 emerged as significant clinical concern, being cancer predisposition, cardiovascular disease, and inflammation. In cells, assumes crucial role in regulation DNA repair pathways, particularly double-strand breaks inter-strand crosslinks. Moreover, exhibits capacity modulate gene expression by interacting with transcription machineries their co-regulatory proteins, thus safeguarding against transcription-induced damage. This review aims provide an overview multifaceted functions its implications maintaining genomic stability. We will discuss potential effects variants on cellular underlying mechanisms pathogenesis disease. impact field pharmacogenomics, specifically influence drug responses, which may pave way for novel therapeutic interventions targeting diseases.

Language: Английский

A novel mutation of CTC1 leads to telomere shortening in a chinese family with interstitial lung disease DOI Creative Commons
Lv Liu,

Hua Luo,

Sheng Yue

et al.

Hereditas, Journal Year: 2023, Volume and Issue: 160(1)

Published: Nov. 18, 2023

Abstract Interstitial lung diseases (ILDs), or diffuse pulmonary disease, are a subset of that primarily affect alveoli and the space around interstitial tissue bronchioles. It clinically manifests as progressive dyspnea, patients often exhibit varied decrease in diffusion function. Recently, variants telomere biology-related genes have been identified genetic lesions ILDs. Here, we enrolled 82 with pneumonia from 2017 to 2021 our hospital explore candidate gene mutations these via whole-exome sequencing. After data filtering, novel heterozygous mutation (NM_025099: p.Gly131Arg) CTC1 was two affected family members. As component CST (CTC1-STN1-TEN1) complex, is responsible for maintaining telomeric structure integrity has also IPF, special kind chronic ILD insidious onset. Simultaneously, real-time PCR revealed members presented short lengths, which further confirmed effect gene. Our study not only expanded spectrum provided epidemiological on ILDs caused by but relationship between ILDs, may contribute understanding mechanisms underlying

Language: Английский

Citations

4
Understanding the Human RECQ5 Helicase—Connecting the Dots from DNA to Clinics DOI Creative Commons

Chiefe Mo,

Yukari Shiozaki, Kenneth Omabe

et al.

Cells, Journal Year: 2023, Volume and Issue: 12(16), P. 2037 - 2037

Published: Aug. 10, 2023

RECQ5, a member of the conserved RECQ helicase family, is sole human homolog that has not been linked to hereditary developmental syndrome. Nonetheless, dysregulation RECQ5 emerged as significant clinical concern, being cancer predisposition, cardiovascular disease, and inflammation. In cells, assumes crucial role in regulation DNA repair pathways, particularly double-strand breaks inter-strand crosslinks. Moreover, exhibits capacity modulate gene expression by interacting with transcription machineries their co-regulatory proteins, thus safeguarding against transcription-induced damage. This review aims provide an overview multifaceted functions its implications maintaining genomic stability. We will discuss potential effects variants on cellular underlying mechanisms pathogenesis disease. impact field pharmacogenomics, specifically influence drug responses, which may pave way for novel therapeutic interventions targeting diseases.

Language: Английский

Citations

3