Mol Neurobiol 2021 May 19. Epub 2021 May 19.
Innovation Center for Neurological Disorders and Department of Neurology, National Clinical Research Center for Geriatric Diseases, Xuanwu Hospital, Capital Medical University, 45 Changchun St, Beijing, 100000, China.
Rare variations in coding regions may alter the amino acid sequence and function of presenilins (PSENs), which results in the dysfunction of gamma-secretase, in turn contributing to the development of familial Alzheimer's disease (AD). However, whether rare variations in the 3' untranslated region (UTR) may change the expression level of PSEN2 leading to AD remains unclear. In a familial AD pedigree, DNA samples of the patients were screened for APP, PSEN1, and PSEN2 gene mutations using Sanger sequencing. Read More