Familial erythrocytosis arising from a gain-of-function mutation in the HIF2A gene of the oxygen sensing pathway

A mutation of HIF-2 alpha has been detected in three generations of a family with erythrocytosis and the mutation co-segregated with the erythrocytosis phenotype. Functional studies revealed that Gly537Trp mutation would significantly impair the function of HIF-2 alpha thus leading to increased synt...

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Bibliographic Details
Published in:Ulster medical journal 2008-05, Vol.77 (2), p.86-88
Main Author: Percy, Melanie J
Format: Article
Language:English
Subjects:
Animals
Basic Helix-Loop-Helix Transcription Factors - blood
Basic Helix-Loop-Helix Transcription Factors - genetics
DNA - genetics
Erythrocytes - metabolism
Genetic Predisposition to Disease
Humans
Mutation
Oxygen - metabolism
Pedigree
Polycythemia - blood
Polycythemia - genetics
Review
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Summary:A mutation of HIF-2 alpha has been detected in three generations of a family with erythrocytosis and the mutation co-segregated with the erythrocytosis phenotype. Functional studies revealed that Gly537Trp mutation would significantly impair the function of HIF-2 alpha thus leading to increased synthesis of Epo. In addition to VHL and PHD2 a further member of the oxygen sensing pathway, namely HIF-2 alpha,can be a cause of erythrocytosis. Furthermore, HIF-2 alpha plays an important role in the regulation of Epo production. Continued study of idiopathic cases of erythrocytosis with raised serum Epo will reveal whether HIF-2 alpha will be a major cause of erythrocytosis on par with VHL.
ISSN:0041-6193