Mechanisms of A-T

While massive strides have been made in recent years in our understanding of A-T, there are still many things that we do not understand. While we know that  having A-T means that cells cannot produce ATM protein, and we have a greater understanding of the complex role that ATM plays in the cell and its processes, we still do not know why this leads to some of the major symptoms of A-T.

Understanding the mechanisms underlying the development of AT is one of the priority areas for our research strategy. This is essential if we are to be able to develop effective treatments.

There are many ways that we can look to do this. New generations of  much more sensitve scanners such as MRI may be able help us see what is happening. A better sharing of information and studies looking at how symptoms in individuals develop over time may help. There is much to learn about and perhap from some of the less well known aspects A-T such as endocrine disorders and the links to diabetes, premature aging and osteoporosis.

Some of this will require new research projects, some may be helped by better communication and sharing of information. The Clinical Research Network set up by the A-T Society in partnership will help this, as will the series of clinical research conferences to be inaugurated by the conference in Cambridge in June 2012.

 

Neurodegeneration

Progressive loss of movement, co-ordination and control of gait in A-T children is caused by cerebellar degeneration and atrophy.  

Scientists are measuring degeneration of key cerebellar motor pathways in the brains of people with A-T using diffusion magnetic resonance imaging (dMRI).  Identifying changes in connectivity will help fully understand the basis of abnormalities in neural circuitry in A-T.  Position emission tomography (PET) is also being used to investigate the brain.  This combined dMRI and PET imaging strategies will provide invaluable information to further understand the neurological symptoms in A-T patients and enable researchers to look for possible treatments.