Small Win for MND

Below is an exciting news article on research (FINALLY) findings on Motor Neurone Disease. There is so little known about this disease, so a finding like this is massive.

For me personally, I have to consider the remote possibility of developing MND. Whilst it seems highly unlikely that my father has the genetic form of the illness, as nobody else in our family history has had it, there is still a possibility.

I would imagine that in the future, a test will be developed where they can see if someone has high levels of those proteins etc etc. As soon as that is available, I will of course take the test.

from http://www.smh.com.au/news/science/gene-flaw-finding-brings-hope-for-neurone-sufferers/2008/02/29/1204226941283.html

SYDNEY researchers have discovered a genetic mutation that causes motor neurone disease, raising the prospect of better diagnosis and a treatment for the fatal paralysing condition.

About one in 5000 people over 50 develop the disease, with most dying within three to five years, apart from rare exceptions such as the physicist Stephen Hawking, whose nerves have been slowly degenerating for more than 40 years.

A team led by researchers at the ANZAC Research Institute at Concord Hospital studied the DNA from more than 500 people with the condition, including an Australian family with at least six members affected and more than 20 of their relatives in Britain.

The team's leader, Ian Blair, said they were excited by the find, which was the culmination of a 10-year project. "This will have crucial implications for understanding motor neurone disease as a whole."

The disease causes the death of nerves that extend from the brain and spinal cord to all the muscles of the body that control the ability to move, breathe, eat, and drink.

About 10 per cent of cases run in families, while the other 90 per cent occur sporadically, mostly later in life. All people with the disease have high levels of a misshapen protein, called TDP-43, in their nerve cells. But it had not been known whether the protein was good, bad or indifferent, or there because it was killing the cells, trying to help repair them, or for some other reason.

The mutation was found in the gene that produces this protein, said Dr Blair, whose study is published in the journal Science. "We've found the smoking gun. We now know this protein truly does play a role in the disease."

Although the specific mutation identified was rare, it caused both inherited and sporadic cases, which meant the TDP-43 gene was implicated in all cases of motor neurone disease, the researchers said.

Understanding how the protein it produced became toxic and killed the cells could lead to a much-needed treatment.