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Mutations In A ‘Housekeeping’ Gene Predispose To Uterine Fibroids

  March, 2 2002 2:23
your information resource in human molecular genetics
Uterine leiomyomata - more commonly known as ‘fibroids’ - run in families and occur frequently. They are estimated to account for nearly 25% of all health care expenditure in Western gynecology departments, and result in short- and long-term blood loss and subfertility. The first identification of their genetic cause is to be described in Nature Genetics (Vol. 30, No. 3, March 2002).

Three groups of scientists led by Ian Tomlinson of the Imperial Cancer Research Fund and Richard Houlston of the Institute of Cancer Research, both in the UK, and Lauri Aaltonen of the University of Helsinki in Finland, discovered that individuals with multiple leiomyomata of the skin and uterus are born with mutations in the fumarate hydratase (FH) gene. FH is commonly referred to as a ‘housekeeping’ gene because its function is to provide the necessary ‘fuel’ to all cells in the body. The scientists gathered evidence that absence or severe reduction of FH activity in certain cells cause tumors to develop - the next step will be to determine how. The finding that mutant FH gives rise to fibroids of the skin and uterus indicates that a metabolic glitch may be at the root of fibroid development, and provides a long-awaited pointer to understanding the molecular basis of uterine fibroids that occur in the absence of skin leiomyomata.

Author contacts:

Ian P.M. Tomlinson
Imperial Cancer Research Fund
London, UK
Tel: +44 20 7269 2884
E-mail: i.tomlinson@icrf.icnet.uk

Richard S. Houlston
Institute of Cancer Research
Surrey, UK
Tel: +44 20 8722 4175
E-mail: r.houlston@icr.ac.uk

Lauri A. Aaltonen
University of Helsinki, Finland
Tel: +358 9 191 25595
E-mail: lauri.aaltonen@helsinki.fi

(C) Nature Genetics press release.

Message posted by: Trevor M. D'Souza

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