Naslov
Ribosomes and diseases

Autori
Volarević, Siniša

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, neobjavljeni rad, ostalo

Skup
391. kolokvij Hrvatskog društva za biokemiju i molekularnu biologiju

Mjesto i datum
Rijeka, Hrvatska, 01.03.2010

Vrsta sudjelovanja
Pozvano predavanje

Vrsta recenzije
Nije recenziran

Ključne riječi
ribosomes; diseases

Sažetak
The capacity to detect and appropriately respond to many different stresses that interfere with functional homeostasis is essential for organismal survival. Recent evidence suggests that the nucleolus, the site of ribosome biogenesis, plays a critical role in sensing and responding to many external and internal stresses. To understand these processes, we have used a genetically defined in vivo mouse models in which ribosome biogenesis could be manipulated. In the Belly Spot and Tail (Bst) mice, which suffer from defects of the eye, skeleton, and coat pigmentation, ribosomal biogenesis is impaired by mutation in one allele of ribosomal protein l24 gene (Rpl24). It has been hypothesized that these pathological manifestations result exclusively from faulty protein synthesis. We have recently demonstrated that up regulation of the p53 tumor suppressor during the restricted period of embryonic development significantly contributes to the Bst phenotype. Our results imply that activation of a p53-dependent checkpoint mechanism in response to ribosomal protein deficiencies might also play a role in the pathogenesis of congenital malformations and possibly other diseases in humans

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

POVEZANOST RADA