Unit 2.1: Genetic Basis of MND

Familial MND refers to cases of Motor Neuron Disease that can be traced back in the family history and are caused by specific genetic mutations. One example of a major genetic mutation associated with familial MND is SOD1, which accounts for around 20% of familial cases. Other genetic mutations linked to familial MND include C9orf72, TARDBP, and FUS. These mutations can lead to the degeneration of motor neurons in the brain and spinal cord, resulting in symptoms such as muscle weakness and atrophy. On the other hand, sporadic MND occurs in individuals without a family history of the disease and is thought to be caused by a combination of genetic and environmental factors. Genetic pleiotropy, where a single gene can have multiple effects on an organism, and penetrance, which refers to the likelihood of a gene causing a particular trait or disease, play important roles in the development of sporadic MND. Gene-environment interactions also contribute to the risk of developing MND. For example, exposure to certain toxins or chemicals in the environment may interact with genetic factors to increase the likelihood of developing the disease. Understanding these complex interactions is crucial for developing effective treatments and interventions for MND.