ABSTRACT
Alzheimer's disease (AD) is the most common neurodegenerative dementia. It manifests as early-onset or late-onset AD. Early-onset AD represents about 5.5% of the total cases and occurs in patients under age 65. The EOAD progresses more aggressively and has a shorter life expectancy due to a greater pathogenic load. We present two asymptomatic siblings, a 30-year-old male and a 34- year-old female, who are heterozygous carriers of a pathogenic variant c.428T>C (Ile143Thr) in the presenilin 1 (PSEN1) gene. During genetic counseling, assisted reproduction techniques (ART) coupled with embryo biopsy and a preimplantation genetic test for monogenic disorders (PGT-M) were recommended to provide reproductive care for the patients and their partners. ART and preimplantation genetic testing (PGT) have made it possible to have chromosomally normal and genetically unaffected offspring, allowing patients with genetic diseases to become parents.
Subject(s)
Alzheimer Disease , Presenilin-1 , Adult , Female , Humans , Male , Alzheimer Disease/genetics , Alzheimer Disease/pathology , Amyloid beta-Protein Precursor , Mutation , Presenilin-1/geneticsABSTRACT
Incubation for 72 h of human peripheral blood cultures in the presence of 60 Hz sinusoidal magnetic fields (MF) at magnetic flux densities of 1.0, 1.5, and 2.0 mT led to stimulation of lymphocyte proliferation but had no influence on the frequency of sister-chromatid exchanges (SCE). The cytotoxic potential of MF combined with the mutagen Mitomycin-C also was analyzed. An opposite effect between MF exposure and Mitomycin-C treatment in terms of cell kinetics and mitotic rate was found, whereas no variation in SCE frequency was observed for this coexposure condition.
