Tag: Genomic instability
Hutchinson–Gilford Progeria Syndrome
Hutchinson–Gilford progeria syndrome is a rare genetic disorder caused by LMNA mutations that generate progerin, a toxic protein disrupting nuclear structure and accelerating ageing. Children develop rapid cardiovascular decline, growth failure and systemic tissue deterioration, making HGPS one of the most important models for understanding human ageing.
Dyskeratosis Congenita
Dyskeratosis congenita is a rare inherited telomere‑maintenance disorder caused by mutations in DKC1, TERT, TERC and POT1. Accelerated telomere shortening leads to premature cellular ageing, bone‑marrow failure, mucocutaneous abnormalities and multisystem disease. The condition provides key insight into how telomere biology shapes human ageing and tissue regeneration.
Progeroid Syndromes
Progeroid syndromes are rare genetic disorders that cause premature ageing due to defects in nuclear‑lamina structure, telomere maintenance and DNA‑repair pathways. Mutations in genes such as LMNA, WRN and TERT accelerate cellular decline, leading to early onset of ageing features and increased susceptibility to cardiovascular, metabolic and degenerative diseases.
Retinoblastoma Protein (pRb)
pRb is a major tumour‑suppressor that governs the G1–S transition by restraining E2F transcription factors and maintaining a repressive chromatin state. When pRb becomes hyperphosphorylated, cells commit to DNA replication. Loss of pRb function leads to uncontrolled proliferation, replication stress and genomic instability, making it a key player in cancer development.
Ubiquitin–Proteasome System (UPS) in Cancer
The ubiquitin–proteasome system (UPS) regulates protein turnover and controls cell‑cycle progression, DNA repair, apoptosis and oncogenic signalling. In cancer, UPS components become dysregulated, leading to excessive degradation of tumour suppressors and stabilisation of oncogenic proteins. This imbalance drives tumour growth and makes UPS a powerful therapeutic target.
Hutchinson–Gilford Progeria Syndrome
Hutchinson–Gilford progeria syndrome is a rare genetic disorder caused by LMNA mutations that generate progerin, a toxic protein disrupting nuclear structure and accelerating ageing. Children develop rapid cardiovascular decline, growth failure and systemic tissue deterioration, making HGPS one of the most important models for understanding human ageing.
Dyskeratosis Congenita
Dyskeratosis congenita is a rare inherited telomere‑maintenance disorder caused by mutations in DKC1, TERT, TERC and POT1. Accelerated telomere shortening leads to premature cellular ageing, bone‑marrow failure, mucocutaneous abnormalities and multisystem disease. The condition provides key insight into how telomere biology shapes human ageing and tissue regeneration.
Progeroid Syndromes
Progeroid syndromes are rare genetic disorders that cause premature ageing due to defects in nuclear‑lamina structure, telomere maintenance and DNA‑repair pathways. Mutations in genes such as LMNA, WRN and TERT accelerate cellular decline, leading to early onset of ageing features and increased susceptibility to cardiovascular, metabolic and degenerative diseases.
Retinoblastoma Protein (pRb)
pRb is a major tumour‑suppressor that governs the G1–S transition by restraining E2F transcription factors and maintaining a repressive chromatin state. When pRb becomes hyperphosphorylated, cells commit to DNA replication. Loss of pRb function leads to uncontrolled proliferation, replication stress and genomic instability, making it a key player in cancer development.
Ubiquitin–Proteasome System (UPS) in Cancer
The ubiquitin–proteasome system (UPS) regulates protein turnover and controls cell‑cycle progression, DNA repair, apoptosis and oncogenic signalling. In cancer, UPS components become dysregulated, leading to excessive degradation of tumour suppressors and stabilisation of oncogenic proteins. This imbalance drives tumour growth and makes UPS a powerful therapeutic target.