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New Gene Found to Be Involved in ALS
A gene that is involved in communication between nerve cells is strongly associated with non-hereditary ALS.
This is shown by the ALS research team at Umeå University in Sweden in an article in a coming issue of the journal The Lancet Neurology.
To try to identify the pathogenic genes involved in ALS, the Umeå scientists, in collaboration with Dutch and Belgian researchers, compared DNA samples from 1,337 patients with non-hereditary ALS with DNA samples from 1,356 healthy individuals.
It is the world’s most comprehensive study in the field thus far. The researchers looked for DNA variants that only occur in patients and not in control subjects. After extremely extensive analyses, they discovered that such a variant in the gene ITPR2 is strongly associated with non-hereditary ALS.
The ITPR2 gene codes for a protein that is important to the regulation of calcium levels in nerve cells. The protein is also involved in neurotransmission (communication between nerve cells) and so-called programmed cell death. Blood analyses revealed that the gene’s activities are higher in ALS patients than in healthy subjects.
Taken together, this indicates that changes in the ITPR2 gene are a strong candidate to be seen as a risk factor in developing ALS. The research team is now busy looking for disease-related mutations in the gene. It is completely unknown just how mutations in the ITPR2 can lead to ALS. At present it is not possible to determine whether the discovery will lead to any new treatment of ALS.
REHACARE.de; Source: The Lancet Neurology
- More information on the Lancet at: www.thelancet.com