Tunoğlu Servet, Yalçın Beyzanur, Tunoğlu Ezgi Nurdan Yenilmez, Karaaslan Zerrin, Bilgiç Başar, Hanağası Haşmet Ayhan, Tüzün Erdem, Küçükali Cem İsmail
Department of Molecular Medicine, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Çapa, Istanbul, Turkey.
Department of Neuroscience, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.
Noro Psikiyatr Ars. 2024 Aug 20;61(3):271-274. doi: 10.29399/npa.28700. eCollection 2024.
Parkinson's Disease (PD) is a neurodegenerative disorder distinguished from other neurodegenerative disorders by the loss of dopaminergic neurons in the substantia nigra region of the brain, and is the most common neurodegenerative disorder, along with 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, the expression of H3C1, H3C12, ITM2B was high, and the expression of ANKRD11, HDAC4, HDAC5 and GABBR1 was low (p<0.05).
As conclusion, we propose that histone regulation is one of the epigenetic mechanisms related to the presence of PD.
帕金森病(PD)是一种神经退行性疾病,其与其他神经退行性疾病的区别在于大脑黑质区域多巴胺能神经元的丧失,并且它是与阿尔茨海默病并列的最常见的神经退行性疾病。病理评估时,PD的特征是存在路易小体。最近的研究表明,在所有PD病例中,仅由基因突变导致的PH发生几率非常低,并且环境因素对疾病进展有显著影响。疾病的分子机制与表观遗传调控导致的基因和蛋白质表达的维持有关。这些调控在神经退行性疾病的发生和发病机制中的作用仍未完全明确。
在我们的研究中,我们检测了特发性PD患者中参与表观遗传过程的基因H3C1、H3C12、HDAC4、HDAC5、ANKRD11、ANKRD12、ITM2B和GABBR1的表达水平。本研究纳入了75例诊断为特发性PD的患者和50名健康对照。从患者组和对照组采集的全血中获取外周血单核细胞(PBMC),然后从PBMC中分离总RNA。
根据患者组和对照组的比较,H3C1、H3C12、ITM2B的表达较高,而ANKRD11、HDAC4、HDAC5和GABBR1的表达较低(p<0.05)。
总之,我们提出组蛋白调控是与PD存在相关的表观遗传机制之一。