A/Pr Michael Lardelli
University of Adelaide
Defining the changes in cell biology caused by PRESENILIN truncations associated with different diseases
National Health and Medical Research Council
Truncations of the PRESENILIN genes in humans can cause two very different diseases: inherited, early onset Alzheimers disease (familial Alzheimer’s disease) and a skin disease named inherited Acne Inversa. One truncation is also involved in the non-inherited, late onset form of Alzheimers disease. Why do these different truncations produce different diseases? Investigating this question will teach us more about the molecular bases of these different diseases. This understanding will be required for the development of treatments.