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DA MUTAÇÃO LMNA AO ENVELHECIMENTO SISTÊMICO: ANÁLISE TRANSLACIONAL DA SÍNDROME DE HUTCHINSON-GILFORD PROGERIA (HGPS)

Doi: 10.47094/978-65-284-0201-4/400-410

PALAVRAS CHAVE: Inibidores de farnesiltransferase. Terapias genéticas. Disfunções celulares progressivas.

KEYWORDS: Farnesyltransferase inhibitors. Genetic therapies. Progressive cellular dysfunctions.

ABSTRACT:
Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic disorder characterized by accelerated aging in children, typically caused by a point mutation in the LMNA gene. This mutation leads to the production of progerin, an abnormal form of the lamin A protein, which compromises nuclear envelope integrity and triggers progressive cellular dysfunction.

Autores

  • Andrea Almeida Zamorano

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