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New genetic model for Parkinson's disease

Researchers at the Karolinska Institute in Sweden are homing in on mechanisms that may explain one set of causes for Parkinson's disease. In mice they have mimicked disturbances of mitochondria thought to be one cause of disease. By genetic means the disturbance of mitochondria - the energy factories of cells - were directed to those nerve cells that produce the transmitter substance dopamine and that die in Parkinson's disease.

"The course of disease in these mice is strikingly similar to human disease", says Dr. Lars Olson.

In the mouse model generated by the research team, a gene called TFAM is automatically deleted from the genome in dopamine nerve cells only. Without TFAM, mitochondria cannot function normally. The so called respiratory chain is compromised and energy production decreases severely in the dopamine cells.

The new mice are born healthy from healthy but genetically modified parents and will develop spontaneous disease. Previous studies in the field have been based on researchers delivering neurotoxic substances to kill the dopamine neurons. In the new mice, however, mice develop disease slowly in adulthood, like humans with Parkinson's disease, which may facilitate research aimed at finding novel medical treatments and other therapies.

"We see that the dopamine producing nerve cells in the brain stem slowly degenerate", says Dr. Nils-Gran Larsson. "In the microscope we can see that the mitochondria are swollen and that aggregates of a protein, probably alpha-synuclein starts to accumulate in the nerve cell bodies. Inclusions of alpha-synuclein-rich so called Lewy bodies is typical for the human disease."

The causes of Parkinson's disease have long remained a mystery. Genes and environment are both implicated, but recently there has been an increased focus on the roles of genetic factors. It has been found that mutations in a number of genes can lead directly to disease, while other mutations may be
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Contact: Katarina Sternudd
katarina.sternudd@ki.se
46-85-248-3895
Karolinska Institutet
28-Jul-2006


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