RECQ helicase disease and related progeroid syndromes: RECQ2018 meeting

Oshima, Junko; Kato, Hisaya; Maezawa, Yoshiro; Yokote, Koutaro

doi:10.1016/j.mad.2018.05.002

Cited by 15 publications

(11 citation statements)

References 29 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The relatively low level of chromosomal aberrations observed in older persons should be a consequence of their genomic stability, and hence, a contributing factor to their attainment of advanced age [ 65 ]. The evidence for this is largely based on accelerated aging phenotypes of DNA repair in mice mutants and human progeroid syndromes [ 66 , 67 ].…”

Section: Genes Shown To Be Associated With Longevitymentioning

confidence: 99%

How Important Are Genes to Achieve Longevity?

Caruso

Ligotti

Accardi

et al. 2022

IJMS

View full text Add to dashboard Cite

Several studies on the genetics of longevity have been reviewed in this paper. The results show that, despite efforts and new technologies, only two genes, APOE and FOXO3A, involved in the protection of cardiovascular diseases, have been shown to be associated with longevity in nearly all studies. This happens because the genetic determinants of longevity are dynamic and depend on the environmental history of a given population. In fact, population-specific genes are thought to play a greater role in the attainment of longevity than those shared between different populations. Hence, it is not surprising that GWAS replicated associations of common variants with longevity have been few, if any, as these studies pool together different populations. An alternative way might be the study of long-life families. This type of approach is proving to be an ideal resource for uncovering protective alleles and associated biological signatures for healthy aging phenotypes and exceptional longevity.

show abstract

Section: Genes Shown To Be Associated With Longevitymentioning

confidence: 99%

How Important Are Genes to Achieve Longevity?

Caruso

Ligotti

Accardi

et al. 2022

IJMS

View full text Add to dashboard Cite

show abstract

“…Notably, the human RecQ helicases play important functions in nearly all DNA repair pathways, in particular those required for the repair of DSBs ( Hickson, 2003 ; Bohr, 2008 ; Croteau et al, 2014 ). The role of human RecQ helicases in DSB repair is supported by the observation that defects in these enzymes result in a number of distinct human genetic disorders, premature aging, and/or carcinogenesis, which may be driven due to defective DSB repair ( Datta et al, 2020 ; Oshima et al, 2018 ). These RecQ helicases participate in multiple DSB repair pathways by physically and functionally interacting with key players in these pathways ( Table 1 ).…”

Section: Human Recq Helicasesmentioning

confidence: 99%

Human RecQ Helicases in DNA Double-Strand Break Repair

Davis

2021

Front. Cell Dev. Biol.

View full text Add to dashboard Cite

RecQ DNA helicases are a conserved protein family found in bacteria, fungus, plants, and animals. These helicases play important roles in multiple cellular functions, including DNA replication, transcription, DNA repair, and telomere maintenance. Humans have five RecQ helicases: RECQL1, Bloom syndrome protein (BLM), Werner syndrome helicase (WRN), RECQL4, and RECQL5. Defects in BLM and WRN cause autosomal disorders: Bloom syndrome (BS) and Werner syndrome (WS), respectively. Mutations in RECQL4 are associated with three genetic disorders, Rothmund–Thomson syndrome (RTS), Baller–Gerold syndrome (BGS), and RAPADILINO syndrome. Although no genetic disorders have been reported due to loss of RECQL1 or RECQL5, dysfunction of either gene is associated with tumorigenesis. Multiple genetically independent pathways have evolved that mediate the repair of DNA double-strand break (DSB), and RecQ helicases play pivotal roles in each of them. The importance of DSB repair is supported by the observations that defective DSB repair can cause chromosomal aberrations, genomic instability, senescence, or cell death, which ultimately can lead to premature aging, neurodegeneration, or tumorigenesis. In this review, we will introduce the human RecQ helicase family, describe in detail their roles in DSB repair, and provide relevance between the dysfunction of RecQ helicases and human diseases.

show abstract

“…Синдром Ротмунда-Томсона представляет собой редкий наследственный симптомокомплекс, обусловленный мутациями гена RECQL4 (8q24.3) семейства RecQ-хеликаз и имеющий некоторые симптомы преждевременного старения, сходные с синдромом Вернера [31,60]. Первые признаки заболевания проявляются к 3-6 месяцу жизни ребенка.…”

Section: Recq-ассоциированные прогероидные синдромыunclassified

Hereditary syndromes with signs of premature aging

et al. 2020

View full text Add to dashboard Cite

Aging is a multi-factor biological process that inevitably affects everyone. Degenerative processes, starting at the cellular and molecular levels, gradually influence the change in the functional capabilities of all organs and systems. Progeroid syndromes (from Greek. progērōs prematurely old), or premature aging syndromes, represent clinically and genetically heterogeneous group of rare hereditary diseases characterized by accelerated aging of the body. Progeria and segmental progeroid syndromes include more than a dozen diseases, but the most clear signs of premature aging are evident in Hutchinson-Guilford Progeria Syndrome and Werner Syndrome. This review summarizes the latest scientific data reflecting the etiology and clinical picture of progeria and segmental progeroid syndromes in humans. Molecular mechanisms of aging are considered, using the example of progeroid syndromes. Modern possibilities and potential ways of influencing the mechanisms of the development of age-related changes are discussed. Further study of genetic causes, as well as the development of treatment for progeria and segmental progeroid syndromes, may be a promising direction for correcting age-related changes and increasing life expectancy.

show abstract

RECQ helicase disease and related progeroid syndromes: RECQ2018 meeting

Cited by 15 publications

References 29 publications

How Important Are Genes to Achieve Longevity?

How Important Are Genes to Achieve Longevity?

Human RecQ Helicases in DNA Double-Strand Break Repair

Hereditary syndromes with signs of premature aging

Contact Info

Product

Resources

About