Cellular mechanisms in ALS/motor neurone disease (Lou Gehrig's Disease)

[WillowJ]

http://www.nytimes.com/2011/08/30/health/30theory.html?_r=1&smid=tw-nytimeshealth&seid=auto

THE HYPOTHESIS

An accumulation of neural proteins causes Lou Gehrigs disease.

THE INVESTIGATOR

Dr. Teepu Siddique, Northwestern University.

Scientists are still unsure exactly what causes most cases. But in the journal Nature last week, researchers at Northwestern

University identified a possible culprit: a cellular housekeeping agent that normally helps cells to clear away proteins that are damaged or misfolded.

When the housekeeper fails, proteins seem to aggregate inside nerve cells, which may be contributing to their destruction.

a "housekeeping" protein is one that is generally produced as a matter of course (it doesn't require some signal regarding conditions in order to turn on the gene and make the protein), because it is generally needed in the cell

other potential causes mentioned in the article include mitochondrial, "problems with the neurotransmitter glutamate, which seems to overstimulate cells in A.L.S., causing toxicity", and problems with nerve axons.

Its possible that one of these might prove more important or more amenable to treatment than the others, Dr. Gubitz said. We dont know that yet, she added. We still need to pursue all of them.

Yet there is growing evidence for the hypothesis that that defective protein clearance plays a pivotal role in A.L.S.

In the early 1990s, Dr. Siddique helped to discover mutations in a gene called SOD1 associated with some inherited forms of the disease. He and other researchers have since identified a variety of other mutations relevant to A.L.S. The problem is that these mutations pertain to a very small number of patients, he said in an interview.

Only 5 to 10 percent of A.L.S. cases are inherited. The rest are sporadic, arising without warning in patients even though they do not have these mutations. The holy grail of the field has been to find a point of molecular convergence that might explain all types of A.L.S., Dr. Siddique said.

The significance of the new report is that he and his team described a cellular problem that appears in both inherited and noninherited forms of the disease.

 

[merylg]

Radio interview with Prof Dominic Rowe on Motor Neurone Disease...

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