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Two Research Reports Shed Light on LAMP-2, a Lysosome Membrane Protein

  August, 28 2000 6:55
your information resource in human molecular genetics

Two papers this week [Nature, VOL. 406, NO. 6798, 24 AUGUST 2000] shed light on the function of LAMP-2, a protein that is found in the membrane of the lysosome - the cell's rubbish bin for old proteins.

One group, Paul Saftig of the University of Dundee, UK, and colleagues have developed LAMP-2-deficient mice (see pp. 902-906). The differences between these and normal mice indicate that LAMP-2 is critical for autophagy - the process by which a cell consumes redundant or damaged bits of itself.

Also this week Ichizo Nishino of Columbia University, New York, and the National Centre of Neurology and Psychiatry, Tokyo, Japan, and colleagues report their findings from ten unrelated patients with primary deficiencies of LAMP-2 (see pp. 906-910). This team concludes that lack of LAMP-2 is the primary cause of Danon's disease - a very rare condition characterized by inflammation or failure of the heart muscle (cardiomyopathy), weakness and wasting of the muscles (myopathy) and mental retardation. The researchers point out that this is probably the first example of such a disease being caused by mutations in a protein of this type, rather than an enzyme.


Paul Saftig
tel +49 551 395 932,
fax +49 551 395 979,
e-mail saftig@uni-bc2.gwdg.de

Ichizo Nishino
tel +81 42 346 1719,
fax +81 42 346 1749,
e-mail nishino@ncnp.go.jp

(C) Nature press release.

Message posted by: Trevor M. D'Souza

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