• Genetics and its importance in Alzheimer's disease
  • Fatemeh Hosseini,1,*
    1. P.HD Student In Physiology Tehran Shomal Azad University Tehran Iran


  • Introduction: Alzheimer's disease (AD) is a multifaceted and diverse neurodegenerative condition. There are currently 46.8 million dementia cases worldwide, and by the year 2050, there will likely be over 131.5 million cases. This study's objective was to look into genetics and how it relates to Alzheimer's disease.
  • Methods: Science Direct, Springer, Google Scholar, and PubMed were utilized as search engines in this investigation of genetics and its significance in Alzheimer's disease.
  • Results: Several novel genes that cause dementia illnesses have recently been discovered. Many insights have been crucial in helping us understand the aetiology of these illnesses. Most significantly, the discovery of disease-causing mutations in the genes for TAR DNA-binding protein-43 (TARDBP), progranulin (GRN), and C9orf72-SMCR8 complex component has furthered our understanding of frontotemporal dementia (C9ORF72). Additionally, the identification of uncommon variations in the gene for the triggering receptor expressed on myeloid cells 2 (TREM2) has brought attention to the role of inflammatory and immunological pathways in the development of AD. The analysis comprised nine genes with known pathogenic mutations causing familial early-onset dementia disorders (APP, PSEN1, PSEN2, MAPT, GRN, TARDBP, CHMP2B, VCP and FUS)
  • Conclusion: As a result, AD is a complicated neurological condition with a significant hereditary component. AD is a significant public health issue, and there is presently no cure or medication to stop AD from progressing. With the development of molecular genetics, numerous researches are being conducted in an effort to identify the genes causing both sporadic and autosomal dominant types of AD. Linkage analyses identified the AD genes APP, PSEN1, PSEN2, and APOE. GWASs have been discovered.20 loci linked to an increased risk of AD. The majority of the AD-related genes primarily fall into one of three groups: endocytosis, inflammatory response, and lipid metabolism. The identification of rare disease variations including PLD3, TREM2, UNC5C, AKAP9, and ADAM10 has been made possible by sequencing technologies.
  • Keywords: Alzheimer, PSEN1, CHMP2B, pathogenic