CUB and Sushi Multiple Domains 1 (CSMD1), a tumour suppressor gene, encodes a large membrane-bound protein including a single transmembrane domain. This transmembrane region has a potential tyrosine phosphorylation site, suggesting that CSMD1 is involved in controlling cellular functions. Although the specific mechanisms of action for CSMD1 have not yet been uncovered, it has been linked to a number of processes including development, complement control, neurodevelopment, and cancer progression. In this review, we summarise CSMD1 functions in the cellular processes involved in the complement system, metastasis, and Epithelial mesenchymal transition (EMT) and also in the diseases schizophrenia, Parkinson’s disease, and cancer. Clarifying the association between CSMD1 and the aforementioned diseases will contribute to the development of new diagnosis and treatment methods for these diseases. Recent studies in certain cancer types, e.g., gastric cancer, oesophageal cancer, and head and neck squamous cell carcinomas, have indicated the involvement of CSMD1 in response to immunotherapy.

Keywords: Granulysin; Genetics; Molecular biology; Polymorphism, single nucleotide; Psoriasis

Tr en Amaç: Parkinson hastalığı, beyinde substansiya nigrada yoğunlaşmış dopaminerjik nöronların kaybı nedeniyle yeterince dopamin üretilememesi sonucu ortaya çıkan bir hastalıktır. Oksidatif stres ve mitokondriyal disfonksiyon patogenezde merkezî bir rol oynar. Hücreleri oksidatif strese karşı koruduğu tespit edilen Sirtuin1 (SIRT1) geni Parkinson hastalığına yatkınlıkla ilişkilendirilmiştir. Bu çalışmada SIRT1 geni rs7895833 ve rs2273773 polimorfizmleri ile Parkinson hastalığı arasındaki ilişkiyi araştırmak amaçlanmıştır. Gereç ve Yöntemler: Çalışmamız 40 Parkinson hastası (hasta grubu) ile 50 sağlıklı birey (kontrol grubu) içerdi. rs7895833 polimorfizmi için polimeraz zincir reaksiyonu–confronting two-pair primers (PCR-CTPP) yöntemi, rs2273773 polimorfizmi içinse polimeraz zincir reaksiyonu–restriksiyon parça uzunluk polimorfizmi (PCR-RFLP) yöntemi kullanıldı. Bulgular: rs7895833 polimorfizmi için sırasıyla hasta ve kontrol gruplarındaki genotip dağılımı AA (%62,5–%53,1), AG (%27,5–%40,8), GG (%10,0–%6,1) şeklindeydi. rs2273773 polimorfizmi için ise hasta ve kontrol grubu genotip frekansları şu şekildeydi: TT (%90,0–%98,0), CT (%10,0–%2,0). rs2273773 ve rs7895833 polimorfizmleri bakımından hasta ve kontrol grupları arasında istatistiksel olarak anlamlı bir fark tespit edilmedi (p>0,05). Tartışma ve Sonuç: Bulgularımız incelenen SIRT1 gen polimorfizmlerinin Parkinson hastalığı gelişiminde zemin hazırlayıcı bir rol oynamadığına işaret etmektedir. Aim: Parkinson’s disease is a disorder caused by insufficient dopamin production due to the loss of dopaminergic neurons concentrated in the substantia nigra of the brain. Oxidative stress and mitochondrial dysfunction play a central role in the pathogenesis. The Sirtuin1 (SIRT1) gene, shown to protect cells against oxidative stress, has been reported to be associated with predisposition to Parkinson’s disease. In this study, we aimed to investigate the relationship between Parkinson’s disease and the SIRT1 gene polymorphisms rs7895833 and rs2273773. Materials and Methods: The study included 40 patients with Parkinson’s disease (the patient group) and 50 healthy individuals (the control group). The polymerase chain reaction with confronting two-pair primers (PCR-CTPP) and polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) methods were used for the rs7895833 and rs2273773 polymorphisms, respectively. Results: For the rs7895833 polymorphism, the genotype distribution for the patient and control groups respectively was as follows: AA (62.5%–53.1%), AG (27.5%–40.8%), GG (10.0%–6.1%). For the rs2273773 polymorphism, the genotype frequencies for the patient and control groups were as follows: TT (90.0%–98.0%), CT (10.0%–2.0%). No statistically significant difference was found between the patient and control groups in terms of rs2273773 and rs7895833 polymorphisms (p>0.05). Discussion and Conclusion: Our findings indicated that the SIRT1 gene polymorphisms investigated did not play a predisposing role in the development of Parkinson’s disease.