HUTCHINSON-GILFORD PROGEROID SYNDROME

Authors

  • Mansurova Ra’no Ilxom qizi Samarkand State Medical University Faculty of Medicine 1, group 115 student Author
  • Islamova Zebiniso Bustonovna Teacher of the department of medical biology and general genetics Author

Keywords:

LMNA gene, HGPS, lamin A, premature aging, rare, autosomal dominant, gene therapy, farnesyltransferase inhibitors, therapeutic approaches.

Abstract

Hutchinson-Gilford progeria syndrome is an extremely rare, autosomal dominant syndrome that involves premature aging, generally leading to death at approximately 13 years of age due to myocardial infarction or stroke. The genetic basis of most cases of this syndrome is connected with LMNA gene, more specifically with lamin A. There have been some potential therapeutic approaches, including farnesyltransferase inhibitors (FTIs) and gene therapy, that have shown promise in addressing the underlying causes of Hutchinson-Gilford Progeria Syndrome (HGPS). In this review, we discuss the genetic mechanisms underlying the development of this syndrome, its genetic characteristics, and potential therapeutic approaches.

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References

Wikipedia.org / Xatchinson-Gilford sindromi / progeriya

Мирсалим Ильясович Абдуллаев, Ширин Аббасхановна Абидова. Синдром прогерии Гетчинсона – Гилфорда (HGPS)

Progeria syndromes and ageing: what is the connection? Christopher R. Burtner and Brian K. Kennedy// Nature Reviews Molecular cell Biology volume 11 (p. 567-568)

https://pubmed.ncbi.nlm.nih.gov

https://www.mdpi.com

https://sciencedirect.com/ cellular mechanisms and therapeutic perspectives

https://pnas.org

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Published

2025-03-09