Fumarate hydratase deficiency and cancer: activation of hypoxia signaling?

Molecular genetic analysis of hereditary leiomyomatosis and renal cell cancer (HLRCC) unexpectedly revealed germline defects in the gene encoding the Krebs cycle enzyme fumarate hydratase (FH), stimulating great interest in the underlying mechanism of oncogenesis. It has been proposed that the assoc...

Cur síos iomlán

Sonraí bibleagrafaíochta
Príomhchruthaitheoir: Ratcliffe, P
Formáid: Journal article
Teanga:English
Foilsithe / Cruthaithe: 2007
_version_ 1826286252804014080
author Ratcliffe, P
author_facet Ratcliffe, P
author_sort Ratcliffe, P
collection OXFORD
description Molecular genetic analysis of hereditary leiomyomatosis and renal cell cancer (HLRCC) unexpectedly revealed germline defects in the gene encoding the Krebs cycle enzyme fumarate hydratase (FH), stimulating great interest in the underlying mechanism of oncogenesis. It has been proposed that the associated accumulation of fumarate competitively inhibits the 2-oxoglutarate-dependent dioxygenases that regulate hypoxia-inducible factor (HIF), thus activating oncogenic hypoxia pathways. In this issue of Cancer Cell, Pollard and colleagues describe a genetic mouse model of FH deficiency that recapitulates aspects of the human disease, including HIF activation and renal cysts, enabling further insights into this unusual cancer syndrome.
first_indexed 2024-03-07T01:41:01Z
format Journal article
id oxford-uuid:96d60ab1-e738-4a78-a015-ffa173ca48c8
institution University of Oxford
language English
last_indexed 2024-03-07T01:41:01Z
publishDate 2007
record_format dspace
spelling oxford-uuid:96d60ab1-e738-4a78-a015-ffa173ca48c82022-03-26T23:55:41ZFumarate hydratase deficiency and cancer: activation of hypoxia signaling?Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:96d60ab1-e738-4a78-a015-ffa173ca48c8EnglishSymplectic Elements at Oxford2007Ratcliffe, PMolecular genetic analysis of hereditary leiomyomatosis and renal cell cancer (HLRCC) unexpectedly revealed germline defects in the gene encoding the Krebs cycle enzyme fumarate hydratase (FH), stimulating great interest in the underlying mechanism of oncogenesis. It has been proposed that the associated accumulation of fumarate competitively inhibits the 2-oxoglutarate-dependent dioxygenases that regulate hypoxia-inducible factor (HIF), thus activating oncogenic hypoxia pathways. In this issue of Cancer Cell, Pollard and colleagues describe a genetic mouse model of FH deficiency that recapitulates aspects of the human disease, including HIF activation and renal cysts, enabling further insights into this unusual cancer syndrome.
spellingShingle Ratcliffe, P
Fumarate hydratase deficiency and cancer: activation of hypoxia signaling?
title Fumarate hydratase deficiency and cancer: activation of hypoxia signaling?
title_full Fumarate hydratase deficiency and cancer: activation of hypoxia signaling?
title_fullStr Fumarate hydratase deficiency and cancer: activation of hypoxia signaling?
title_full_unstemmed Fumarate hydratase deficiency and cancer: activation of hypoxia signaling?
title_short Fumarate hydratase deficiency and cancer: activation of hypoxia signaling?
title_sort fumarate hydratase deficiency and cancer activation of hypoxia signaling
work_keys_str_mv AT ratcliffep fumaratehydratasedeficiencyandcanceractivationofhypoxiasignaling