Abstract
Understanding the genetic basis and pathomechanisms underlying dementia arising from single-gene mutations is crucial to expand our knowledge in the field of dementia research. In this review, we comprehensively summarize the results of existing research using induced pluripotent stem cells (iPSCs) to investigate familial Alzheimer’s disease caused by mutations in the presenilin-1 (PSEN1), presenilin-2 (PSEN2), or amyloid precursor protein (APP) genes. We further review existing iPSC studies in leukodystrophies, including Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL), caused by mutations in the notch receptor 3 (NOTCH3) gene; and adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), caused by mutations in the colony-stimulating factor 1 receptor (CSF1R) gene. We systematically review the advantages and necessity of using iPSCs in research to elucidate the pathogenesis of neurodegenerative diseases, particularly to facilitate disease modeling. Furthermore, we introduce applied research based on iPSC technology. Through this review, we aimed to help elucidate the mechanisms by which causative genes induce dementia symptoms in neurodegenerative diseases, which would help contribute to the development of effective treatment strategies.
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