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Mini-Review: molecular elucidations of hutchinson-gilford progeria syndrome: A hope for managing horrors of premature aging in children.

Pakistan journal of pharmaceutical sciences - 1 May 2020

Ahmed Bilal, Basheer Ruby, Irfan Muhammad, Hamid Akash Muhammad Sajid, Muhammad Syed Aun, Qadir Muhammad Imran

Abstract excerpt

Hutchinson-Gilford Progeria syndrome (or Progeria) is an exceptionally rare genetic disorder in children. It is caused by a rare point mutation in the lamin gene. It encodes lamin A protein, resulting in the de-shaping of nuclear membrane. This altered structure of the nuclear membrane renders the nucleus unstable. The shortened lifespan of the nucleus makes the cell liable for rapid ageing. Children are healthy...

Topics

Aging, Premature
Female
Genetic Predisposition to Disease
Humans
Lamin Type A
Male
Phenotype
Point Mutation
Progeria
Prognosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33191246

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