RECQ helicase disease and related progeroid syndromes: RECQ2018 meeting.

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.

• Authors: Junko Oshima, Hisaya Kato, Yoshiro Maezawa, Koutaro Yokote
• Journal: Mechanisms of ageing and development (Mech Ageing Dev) Vol. 173 Pg. 80-83 (07 2018) ISSN: 1872-6216 [Electronic] Ireland
• PMID: 29752965 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)
• Copyright: Copyright © 2018 Elsevier B.V. All rights reserved.

Chemical References

• WRN protein, human
• Werner Syndrome Helicase

Topics

• Animals
• Cockayne Syndrome (enzymology, genetics, pathology)
• Congresses as Topic
• DNA Repair
• DNA Repair-Deficiency Disorders (enzymology, genetics, pathology)
• Humans
• Japan
• Werner Syndrome Helicase (genetics, metabolism)