Unfortunately, Dr. Fishbeck was unable to attend due to a family emergency. Dr. Diane Merry led the discussion in his absence. Dr. Merry did a good job making the complex SBMA subject and medical terms simple and easy to understand.
Researchers hope to model and find out why women carriers are protected from showing symptoms.
This string of glutamine amino acids that is a part of the normal androgen receptor protein is much longer than it should be in Kennedy s patients. It is now known that the expanded glutamine stretch within the androgen receptor protein causes it to become toxic to motor neurons. Every protein in the cell must fold in a very particular way in order to function. The expansion of the glutamine tract causes the androgen receptor to misfold and to become very sticky. It forms large aggregated structures within neurons.