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Investigation of candidate genes that may be related to parkinson's disease

2022
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Advisor: Doç. Dr. Cem İsmail Küçükali

Abstract (EN)

Parkinson's Disease (PD) is a neurological disease that is differed from other neurodegenerative disorders by the loss of dopaminergic neurons in the substantia nigra region of the brain, and is the most common neurodegenerative disease as well as Alzheimer's Disease. PD is characterized by the presence of Lewy bodies when evaluated pathologically. Recent studies showed that the incidence of PH development as a result of genetic mutations alone is very low among all PD cases, and that environmental effects contribute significantly to the disease progression. The molecular mechanisms of diseases are associated with the maintenance of gene and protein expressions as a result of epigenetic regulations. The role of these regulations in the development and pathogenesis of neurodegenerative diseases is still not clearly understood. In our study, we examined the expression levels of H3C1, H3C12, HDAC4, HDAC5, ANKRD11, ANKRD12, ITM2B and GABBR1, which are genes involved in epigenetic processes in patients with idiopathic PD. Seventy five patients diagnosed with idiopathic PD and 50 healthy controls were included in the study. Peripheral Blood Mononuclear Cell (PBMC) was obtained from whole blood taken from the patient and control groups, and then total RNA was isolated from PBMC. According to the comparison of the patient and control groups were compared, the expression of H3C1, H3C12, ITM2B was high, and the expression of ANKRD11, HDAC4, HDAC5 and GABBR1 was low (p<0.05). As a conclusion, we propose that histone regulation is one of the epigenetic mechanisms which related with the presence of PD.

Author

Dr. Servet Tunoğlu

How to Cite

Servet Tunoğlu (Doctorate thesis). Investigation of candidate genes that may be related to parkinson's disease, 2022, İstanbul University.

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