• Association study of TOMM40 (Translocase of Outer Mitochondrial Membrane 40) gene polymorphism rs8106922 with sporadic serotinous onset Alzheimer's disease
  • ranahajilou,1,* Dariush d.farhud,,2 Marjan zarif yeganeh,3 Sharare Sadeghian firouzabadi,4
    1. Masters of cellular and molecular sciences, Islamic azad university tehran-East, Tehran, Iran. Farhud Genetic Clinic,Tehran, Iran
    2. Farhud Genetic Clinic,Tehran, Iran. School of Public Health, Tehran University of Medical Sciences, Tehran, Iran. Department of Basic Sciences / Ethics, Iranian Academy of Medical Sciences Tehran, Iran.
    3. Farhud Genetic Clinic,Tehran, Iran. Cellular and Molecular Endocrine Research Center, Research Institute for Endocrine science , Shahid Beheshti University of Medical Sciences, Tehran ,Iran.
    4. Masters of cellular and molecular sciences, Islamic azad university tehran-East, Tehran, Iran. Farhud Genetic Clinic,Tehran, Iran.


  • Introduction: Alzheimer's disease is the most common type of dementia "dementia" in aging. The incidence increases with age and is associated with brain attrition and focal neurological degeneration, especially in hippocampus and the forehead.. Alzheimer's disease is classified according to its onset :early onset (less than 65 years ) and late onset (over 65 years ) type. Alzheimer's is a multifactorial disease that both genetic and environmental factors contribute to its demographic distribution. The gene is located in 13q 19 area which is about 15 kilobase closer to APOE gene.
  • Methods: In this study of control- Test blood were taken from 117 patients and 130 control. DNA extraction was contribute by Salting iout /Protenase k method and study on base ARMS-PCR method.
  • Results: DNA was extracted from blood samples ofthe healthy and patients , and their absorption (OD) were determined then PCR was performed for all patient and control samples. PCR product was electrophoresed with10% polyacrylamide gel. InRs 8106922 those with AG genotype are protective against those of the genotype AA and the chance of getting the disease decreases by0.463 times . OR :0.463 Pvalue :0.003
  • Conclusion: this study showed that distribution of TOMM40 gene rs8106922 polymorphism in both control and patient groups have a significant relationship with sporadic late-onset Alzheimer’s disease.By controlling the effect of this SNP showed that being a female has no significant effect on the emergence of this disease .
  • Keywords: Alzheimer's disease, polymorphism, mutation, PCR, TOMM40 gene.