RECQ Helicase Disease and Related Progeroid Syndromes: RECQ2018 Meeting

Overview

Journal Mech Ageing Dev

Specialty Geriatrics

Date 2018 May 13

PMID 29752965

Citations 4

Authors

Junko Oshima

Hisaya Kato

Yoshiro Maezawa

Koutaro Yokote

Affiliations

Soon will be listed here.

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.

Citing Articles

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