PRESENILINS - DISCOVERY AND CHARACTERIZATION OF THE GENES OF ALZHEIMERS-DISEASE

The genes (presenilins) whose mutations cause Alzheimer's disease were discovered owing to the conventional strategy of positional cloning, for the first time successfully realized for identifying the gene of g eneral neuropsychic pathology and revealing the most widespread cause of degradation of memory and intellect in humans. These data open a ne w area in studying the biology of dementia and degeneration upon aging , The discovered family of highly conserved genes !presenilins) encode a new class of proteins of intracellular organelles involved in the s ystem of cell signal transduction and apoptosis, Although presenilin g enes are actively expressed in various tissues, the mutations in these genes cause the death of neurons in specific brain compartments respo nsible for the higher neural functions. Revealing the molecular mechan ism of this process will have a great impact on the development of a r ational therapy of Alzheimer's disease patients and on elucidation of the cellular processes of memory storage and realization in norm and p athology.