Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0043346 (xeroderma pigmentosum)
 2,924 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hutchinson-Gilford progeria syndrome (HGPS) is a rare, deadly laminopathy. Research into its nature has provided valuable insights into understanding molecular mechanisms underlying cell senescence. Phenotypic changes in nuclear structure and heterochromatin, resulting from increased progerin production following overuse of a cryptic splice site in the LMNA gene have profound effects on cell cycle progression and DNA repair mechanisms. A high degree of genomic instability occurs as DNA double-strand breaks are introduced but not repaired, despite appropriate machinery. Damage-response mechanisms become deregulated as a result of failed recruitment of elongation factors and possibly ancillary to disruption of chromatin organization. Key regulatory regions on mRNA transcripts governing splicing activity have been exposed using antisense technology, and identification of novel molecular targets, such as xeroderma pigmentosum group A, have generated optimism for the possibility of finally yielding an effective therapy for slowing the aging process in HGPS patients while concomitantly providing valuable insights into physiological aging in general.
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PMID:Unraveling the mysteries of aging through a Hutchinson-Gilford progeria syndrome model. 2120 65

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.
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PMID:RECQ helicase disease and related progeroid syndromes: RECQ2018 meeting. 2975 65