Orta Anadolu’daki Parkinson Hastalarında Homosistein ve MTHFR Polimorfizmleri Arasındaki İlişkinin Araştırılması ve Tedavi Seçenekleri

Aim In this study, we aimed to investigate the effects of MTHFR C677T and A1298C polymorphisms to homocysteine levels in patients with Parkinson's disease who were treated with levodopa and entekapone. Materials and Methods Plasma homocysteine (hcy), folic acid and vitamin B12 levels and MTHFR (C677T, A1298C) polymorphisms and treatment options were compared in 70 Parkinson's Disease (PD) patients who taking levodopa (n=26), dopamine agonist (n=11) and levodopa and entacapone treatment together (n=33) with 100 controls. Results Although no statistically significant difference was detected, hcy level of the patients was found higher compared to control group (patient 18.29 ± 9.22 µmol /l vs control 15.77 ± 7.58 µmol / l) and hcy level was highest in the patients receiving only levodopa (19.56 ± 10.77 µmol / l). The frequency of TT genotype in the patients was higher compared to the control group (11.4%, 6%). Especially, hcy level for levodopa-receiving patients with 677TT genotype became significantly higher level when compared with other genotypes of levodopareceiving patients (respectively 677TT 36.28 ± 16.17, 677CT 13.5 ± 1.71, 677CC 17.2 ± 6.59). No statistically significant difference was detected between patients and controls regarding their folic acid and vitamin B12 levels and A1298C polymorphism. Conclusion Finally, both 677TT genotype and levodopa treatment might be jointly contributed to the increasing of the plasma hcy levels in PD patients and entacapone limitedly decreased hcy levels during levodopa treatment. It can be said that results need to be supported with larger sample sized comprehensive studies.Amaç Çalışmamızda levodopa ve entekapon kullanan Parkinson hastalarında MTHFR genindeki C677T ve A1298C polimorfizmlerinin homosistein düzeyine etkilerini araştırmayı amaçladık. Materyal ve Metot 70 Parkinson (PD) hastasında; plazma homosisteini (hcy), folik asit, B12 vitamini seviyeleri, MTHFR (C677T, A1298C) polimorfizmleri ve tedavi seçenekleri karşılaştırıldı. 100 kişilik bir kontrol grubunun yer aldığı çalışmada, 70 hastanın 26’sı levodopa (n=26), 11’i dopamin agonisti (n=11) kullanırken, 33 hasta da levodopa ve entakapon tedavisini birliktealmaktaydı. Bulgular İstatistiki olarak anlamlı bir fark gözlenmese de, hastalardaki homosistein seviyesinin kontrol grubunda yer alanlara göre daha fazla olduğu tespit edildi (hasta 18.29 ± 9.22 µmol /l vs kontrol 15.77 ± 7.58 µmol/ l). Ayrıca homosistein seviyesinin en yüksek olduğu hasta grubunun sadece levodopa kullanan hastalar olduğu görüldü (19.56 ± 10.77 µmol / l). Hastalardaki TT genotipinin sıklığının da kontrol grubunda yer alanlara göre daha fazla olduğu görüldü (%11.4, %6). Özellikle, levodopa kullanan ve 677TT genotipine sahip olan hastalardaki homosistein seviyesi, levodopa kullanan ve diğer genotiplere sahip olan hastalardaki homosistein seviyesine göre anlamlı bir şekilde yüksek (sırasıyla 677TT 36.28 ± 16.17, 677CT 13.5 ± 1.71, 677CC 17.2 ± 6.59). Hastalar ve kontrol grubu arasında folik asit ve B12 vitamini seviyeleri ile A1298C polimorfizmi açısından anlamlı bir farka rastlanmadı. Sonuç Sonuç olarak; Parkinson hastalarında 677TT genotipinin ve levodopa kullanımının bir arada olmasının plazma homosistein seviyesini artırdığı, ayrıca entakaponun levodopa tedavisi esnasında sınırlı da olsa homosistein seviyesini düşürdüğü gözlemlenmiştir. Ancak sonuçların daha fazla örnek sayısı içeren kapsamlı çalışmalarla desteklenmesinin gerekli olduğu söylenebilir

Investigation of the Association of Homocysteine and MTHFR Polymorphisms and Treatment Options in Parkinson’s Disease in Central Anatolian Region*

AimIn this study, we aimed to investigate the effects of MTHFR C677T and A1298C polymorphisms to homocysteine levels in patients with Parkinson's disease who were treated with levodopa and entekapone.Materials and MethodsPlasma homocysteine (hcy), folic acid and vitamin B12 levels and MTHFR (C677T, A1298C) polymorphisms and treatment options were compared in 70 Parkinson's Disease (PD) patients who taking levodopa (n=26), dopamine agonist (n=11) and levodopa and entacapone treatment together (n=33) with 100 controls.ResultsAlthough no statistically significant difference was detected, hcy level of the patients was found higher compared to control group (patient 18.29 ± 9.22 μmol /l vs control 15.77 ± 7.58 μmol / l) and hcy level was highest in the patients receiving only levodopa (19.56 ± 10.77 μmol / l). The frequency of TT genotype in the patients was higher compared to the control group (11.4%, 6%). Especially, hcy level for levodopa-receiving patients with 677TT genotype became significantly higher level when compared with other genotypes of levodopa-receiving patients (respectively 677TT 36.28 ± 16.17, 677CT 13.5 ± 1.71, 677CC 17.2 ± 6.59). No statistically significant difference was detected between patients and controls regarding their folic acid and vitamin B12 levels and A1298C polymorphism.ConclusionFinally, both 677TT genotype and levodopa treatment might be jointly contributed to the increasing of the plasma hcy levels in PD patients and entacapone limitedly decreased hcy levels during levodopa treatment. It can be said that results need to be supported with larger sample sized comprehensive studies

Impact of genetic abnormalities on outcome of fertilization after ICSI in azoospermia and severe oligozoospermia patients

Bu çalı manın amacı; azoospermili ve oligozoospermili erkek hastalarda hem kromozom anomalilerinin hem de Y mikrodelesyonlarının sıklı ını ve tiplerini belirlemek; saptanan genetik anomaliler ile infertil erkeklerdeki klinik veriler arasındaki ili kiyi incelenmi tir. Genetik anomali saptanan azoospermik ve oligozoospermik erkeklerde, genetik anomali varlı ının intrasitoplazmik sperm injeksiyonu (ICSI) sonrası fertilizasyon ba arısı oranları üzerine etkisini ara tırmaktır. Bu çalı mada 97 infertil ve 10 fertil erkek incelenmi tir. Bu çalı mada 97 infertil erkek hasta arasında azoospermik olan 73 hastanın 2'sinde Y kromozom delesyonu saptanmı tır. Azoospermik 73 hastanın 13'ünde ve oligozoospermili 24 hastanın ise 3'ünde toplam 16 infertil hastada kromozom anomalisi saptanmı tır. Genetik anomalili hastaların ICSI sonrası gebelik sonuçları ile non-genetik hastaların ICSI sonrası gebelik sonuçları arasında istatistiksel olarak anlamlı bir fark bulunmamıştırWe determined the incidence and types of microdeletion and chromosomal abnormalities in azoospermia and oligozoospermia male patients; correlation between clinical data of infertile patients and genetic abnormalities. We investigated the impact of genetic abnormalities which present in azoospermia and oligozoospermia male patients' fertilisation success rate after intracytoplasmic sperm injection (ICSI). We performed 97 infertile and 10 fertile males in this study. Among the studied of 97 infertile male patients, 73 were azoospermic and 24 were oligozoospermic. total of 16 patients detected with Yazışma Adresi: chromosome microdeletions; 13 out of 73 azoospermic patients and out of 24 oligozoospermic patients detected With chromosomal abnormalities. We invastigated the incidence of chromosome microdeletions and chromosomal abnormalities and total genetic abnormalities in those patients. Among patients who had pregnancy after ICSI, there was not any statistical correlation between patients those has genetic abnormalities and pregnancy. We detected neither chromosome deletions nor chromosomal abnormalities in the fertile control group of 10 people