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| Zdroj: |
Hematology Week; 3/21/2024, p449-449, 1p |
| Abstrakt: |
A recent study conducted by researchers at the University of Toronto has shed light on the underlying causes of Pacak-Zhuang syndrome, a genetic disorder associated with neuroendocrine tumors and polycythemia. The study found that mutations in the EPAS1 gene, which encodes for one of the hypoxia-inducible factor alpha (HIFa) paralogs HIF2a, are responsible for the syndrome. The researchers used a quantitative method to determine the dissociation constant (Kd) of HIF2a peptides containing disease-associated mutations and the catalytic domain of prolyl-hydroxylase (PHD2). They discovered that the strength of the interaction between HIF2a and PHD2 is a key factor in the observed genotype-phenotype correlations in Pacak-Zhuang syndrome. This research provides valuable insights into the biology of the syndrome and may contribute to the development of targeted treatments in the future. [Extracted from the article] |
| Databáze: |
Complementary Index |
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