A team of researchers studying highly inbred families in Kuwait, Tunisia and Saudi Arabia has identified a new gene for an inherited form of amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease. Although only 5-10% of cases of ALS are hereditary, the findings may explain the mechanisms that underlie the disease.
ALS2 is an autosomal recessive form of juvenile ALS and has been mapped to chromosome 2q33. The researchers reported two independent deletion mutations linked to ALS2 in the coding region of a new gene, ALS2. The deletion mutations lead to frameshifts that generate premature stop codons. The gene is expressed in various tissues and cells, including neurons throughout the brain and spinal cord, and encodes a protein that is suggested to be a putative GTPase regulator. Deletion mutations that are predicted to cause a loss of protein function provide strong evidence that ALS2 is the causative gene underlying this form of the disease.
It is hoped that if the gene controls a protein that is necessary for cell survival, this could help in the development of drugs to protect these neurons in ALS, and possibly in other forms of neurodegenerative diseases.
- Hadano S, Hand CK, Osuga H, et al. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nature Genetics 2001;29:166-173.