Geneticists at the University of Tokyo have shed new light on the genetics of the fatal neurological disease amyotrophic lateral sclerosis (ALS).
Also known as Lou Gehrig’s disease, ALS is a fast progressing neurodegenerative disease that involves the death of motor neuron cells.
In an upcoming report, Dr Hidenori Ichijo and Dr Hideki Nishitoh identify how mutations in the enzyme SOD1 lead to motor neuron cell death and the progression of ALS.
The researchers were able to characterize a molecular pathway by which mutated SOD1 contributes to the accumulation of malformed proteins in motor neuron cells.
Results of the genetic research suggested that inactivation of certain key factors in this pathway could mitigate neurodegeneration and prolong survival in a mouse model of inherited ALS.
According to research, five to ten per cent of all ALS cases are inherited. The disease is one of the most common neuromuscular diseases in the world, affecting approximately 25,000 Americans, with an estimated 5,000 new diagnoses each year.
