Molecular Research on Alzheimers Disease of Saudi Patients
- Slides: 8
Molecular Research on Alzheimer’s Disease of Saudi Patients and its Applications Fadia El Bitar, Ph. D Scientist Department of Genetics KFSHRC Riyadh, KSA KACST project no. : 13 -MED 684 -20 RAC no. : 2120 020 RAC no. : 2160 001 Trip to look for memory Molecular Biology Conference, Dubai, UAE. 10 -11 October 2016
Neurodegenerative disorder Dementia Neuronal loss Alzheimer’s Disease (AD) LOAD >65 Sporadic Autosomal Dominant Familial EOAD <65
Neuropathological Feature of Alzheimer’s Disease Alzheeimer A. Allg Z Psychiatr 1907 Brain Atrophy Healthy Brain Advanced Alzheimer’s Cortical Shrinkage Enlarged ventricles Hippocampus Shrinkage Neurofibrillary Tangles Neuronal Plaques
Applying Alzheimer’s Research In Saudi Patients To Personalized Treatment Patient ts s a bl ro Fib Tr ea tm en t Ne uro ug Dr ns ng i n ee r c S
Genetic Cause of Alzheimer’s Disease Early Onset Familial AD (~5%) Late Onset AD APP 18 exons Chr 21 PSEN 2 12 exons PSEN 1 12 exons Chr 14 • Amino acid substitution • Chr 1 Beta amyloid fragment APOE *APOE 4 SORL 1 49 exons Chr 11 Chr 19
PSEN & APP Role in Beta Amyloid Overproduction b-secretase Pathway: APP Protein: b a g g (1) b-secretase cuts APP protein, giving: PSEN (2) g-secretase cuts this residue, giving: Ab 40 Fragment Soluble Ab 42 Fragment Unsoluble, aggregates into plaques or
In the present study, we examined mutations related to Genetic Components of EOAD and to LOAD • • • PSEN 1 PSEN 2 APP SORL 1 APOe 4
Molecular Biology Conference, Dubai, UAE. 10 -11 October 2016
