| Literature DB >> 29752965 |
Junko Oshima1, Hisaya Kato2, Yoshiro Maezawa2, Koutaro Yokote2.
Abstract
Progeroid syndrome is a group of disorders characterized by the early onset of diseases that are associated with aging. Best known examples are Werner syndrome, which is adult onset and results from disease-causing DNA sequence variants in the RecQ helicase gene WRN, and Hutchison-Gilford progeria syndrome, which is childhood-onset and results from unique, recurrent disease-causing DNA sequence variants of the gene LMNA that encodes nuclear intermediate filaments. Related single gene RecQ disorders are Bloom syndrome and Rothmund-Thomson syndrome. The RecQ disorders Cockayne syndrome and xeroderma pigmentosum result from disease-causing DNA sequence variants in genes involved in the nucleotide excision repair pathway. RECQ2018: The International Meeting on RECQ Helicases and Related Diseases was held on February 16-18, 2018 in Chiba, Japan. The purpose of the meeting was to facilitate clinical and research collaborations for the goal of developing effective treatments for RECQ disorders and other progeroid syndromes.Entities:
Keywords: Aging; Genomic instability; Progeroid syndrome; RECQ2018; Werner syndrome
Mesh:
Substances:
Year: 2018 PMID: 29752965 PMCID: PMC6217841 DOI: 10.1016/j.mad.2018.05.002
Source DB: PubMed Journal: Mech Ageing Dev ISSN: 0047-6374 Impact factor: 5.432