Title |
The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency
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Published in |
BMC Medical Genomics, March 2008
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DOI | 10.1186/1471-2350-9-20 |
Pubmed ID | |
Authors |
Jean-Pierre Bayley, Virpi Launonen, Ian PM Tomlinson |
Abstract |
Fumarate hydratase (HGNC approved gene symbol - FH), also known as fumarase, is an enzyme of the tricarboxylic acid (TCA) cycle, involved in fundamental cellular energy production. First described by Zinn et al in 1986, deficiency of FH results in early onset, severe encephalopathy. In 2002, the Multiple Leiomyoma Consortium identified heterozygous germline mutations of FH in patients with multiple cutaneous and uterine leiomyomas, (MCUL: OMIM 150800). In some families renal cell cancer also forms a component of the complex and as such has been described as hereditary leiomyomatosis and renal cell cancer (HLRCC: OMIM 605839). The identification of FH as a tumor suppressor was an unexpected finding and following the identification of subunits of succinate dehydrogenase in 2000 and 2001, was only the second description of the involvement of an enzyme of intermediary metabolism in tumorigenesis. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 1 | 1% |
Unknown | 72 | 99% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 14 | 19% |
Other | 10 | 14% |
Student > Ph. D. Student | 10 | 14% |
Student > Bachelor | 6 | 8% |
Professor > Associate Professor | 6 | 8% |
Other | 12 | 16% |
Unknown | 15 | 21% |
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Nursing and Health Professions | 1 | 1% |
Other | 5 | 7% |
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