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Pak J Pharm Sci ; 33(3): 1179-1182, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-33191246

RESUMO

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 by appearance when they are born but the signs appear after 12-24 months of age. Cardiovascular system is greatly affected which became a reason for the death of most of the patients of progeria. Stiffened joints disturb the bone movements; and alopecia affects the appearance of the patient. Rate of occurrence of the disease is one per four hundred thousand of people, though both sexes are equally affected.


Assuntos
Senilidade Prematura , Lamina Tipo A/genética , Mutação Puntual , Progéria/terapia , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Fenótipo , Progéria/genética , Progéria/patologia , Progéria/fisiopatologia , Prognóstico
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