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New Neurodegenerative Mouse Mutant

  June, 27 2007 8:47
your information resource in human molecular genetics
A new mouse model of neurodegeneration is described in Nature. The mutation responsible is also seen in patients with a particular type of nerve disorder, making it a potentially useful research tool.

Miriam H. Meisler and colleagues studied the 'pale tremor' mouse, which carries a mutation in a gene that encodes a particular lipid. The mice show altered levels of this lipid, abnormal pigmentation, early neurodegeneration and big holes in affected cells.

The team identified a similar mutation in four unrelated patients with a form of Charcot-Marie-Tooth disorder - an incurable, inherited nerve disorder in which patients lose muscle tissue and touch sensation. Alongside the mouse studies, these findings suggest that mutations that impair the formation of key phospholipids may contribute to hereditary sensory and motor neuropathies.

Author contact:

Miriam H. Meisler (University of Michigan, Ann Arbor, MI, USA)
E-mail: meislerm@umich.edu

(C) Nature press release.

Message posted by: Trevor M. D'Souza

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