Close
Amyotrophic lateral sclerosis
ALS is the most frequent form of MND, and is often referred to as “motor neuron disease”. ALS is characterised pathologically by the progressive degeneration and death of both upper and lower MNs. It is the most aggressive form of adult-onset MND and causes death on average three years after onset mostly due to the involvement of the respiratory MNs, which leads to respiratory failure. There is an MND service at the National Hospital for Neurology and Neurosurgery [link https://www.uclh.nhs.uk/ourservices/servicea-z/neuro/mnd/Pages/Home.aspx].
Genetic research has identified causative mutations in a small proportion of patients. These findings have been invaluable to research as they have allowed the generation of disease models. We currently are focusing on two genes: TARDBP and FUS. Both genes encode for hnRNPs and are involved in multiple steps of RNA metabolism, including splicing, miRNA biogenesis, stress granule formation and RNA transport.
[link to projects]