Canadian scientists conducted the first large-scale genetic research of ALS
The team of Canadian scientists from the University of Montreal studied amyotrophic lateral sclerosis (ALS) patients’ genes in order to identify the cause of the disease. They focused on 29 genes which encode important proteins for proper development of motor neurons. The erroneous protein synthesis leads to loss of these cells in the brain and spinal cord and progressive paralysis of ALS patients.
This is the first large-scale genetic study in the field of this devastating disease. The scientists examined 190 patients from Canada and France with familial and sporadic ALS. The results of the study were published in the online version of Archives of Neurology in January 2011.
Focusing on the group of 29 genes specifically expressed in motor neurons, the researchers revealed high frequency of rare harmful mutations in ALS patients. These mutations change the structure of proteins crucial for motor neurons functioning. The study identified several promising novel genes for ALS such as LUM and CRYM.
However, the scientists emphasize the need for further research to definitely confirm these genes implicate in ALS. Nevertheless, the study illuminates possible genetic causes of the disease. It can open new ways for research in ALS pathogenesis which in most cases remains unknown.