کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8645997 | 1569794 | 2018 | 37 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Mitochondrial tRNALeu(UUR) C3275T, tRNAGln T4363C and tRNALys A8343G mutations may be associated with PCOS and metabolic syndrome
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کلمات کلیدی
PMNsHDL-CHBSSFINSDCFHMFEFPGHbA1cT2DMPCOSLHON2,7-dichlorodihydrofluoresceinMMPHanks' buffered salt solutionMitochondrial DNA - DNA میتوکندریاROS - ROSMitochondrial dysfunction - اختلال در عملکرد میتوکندریFasting insulin - انسولین روزانهPartition function - تابع پارتیشنtriglyceride - تریگلیسریدMinimum free energy - حداقل انرژی آزادType 2 diabetes mellitus - دیابت نوع دوmtDNA - دیانای میتوکندریاییPolycystic ovary syndrome - سندرم تخمدان پلی کیستیکMetabolic syndrome - سندرم متابولیکbody mass index - شاخص توده بدنBMI - شاخص توده بدنیConservation Index - شاخص حفاظتBlood pressure - فشارخونhigh-density lipoprotein cholesterol - لیپوپروتئین پرچگالی یا اچدیالMETS - متسTotal testosterone - مجموع تستوسترونInsulin resistance - مقاومت به انسولینLeber's hereditary optic neuropathy - نوروپاتی اپتیکی ارثی LeberHemoglobin A1c - هموگلوبین A1cMitochondrial membrane potential - پتانسیل غشای میتوکندریhigh-pressure liquid chromatography - کروماتوگرافی مایع با فشار بالاHPLC - کروماتوگرافی مایعی کاراReactive oxygen species - گونههای فعال اکسیژن
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
ژنتیک
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Mitochondrial tRNALeu(UUR) C3275T, tRNAGln T4363C and tRNALys A8343G mutations may be associated with PCOS and metabolic syndrome Mitochondrial tRNALeu(UUR) C3275T, tRNAGln T4363C and tRNALys A8343G mutations may be associated with PCOS and metabolic syndrome](/preview/png/8645997.png)
چکیده انگلیسی
Polycystic ovary syndrome (PCOS) is a very prevalent endocrine disease affecting reproductive women. Clinically, patients with this disorder are more vulnerable to develop type 2 diabetes mellitus (T2DM), cardiovascular events, as well as metabolic syndrome (MetS). To date, the molecular mechanism underlying PCOS remains largely unknown. Previously, we showed that mitochondrial dysfunction caused by mitochondrial DNA (mtDNA) mutation was an important cause for PCOS. In the current study, we described the clinical and biochemical features of a three-generation pedigree with maternally transmitted MetS, combined with PCOS. A total of three matrilineal relatives exhibited MetS including obesity, high triglyceride (TG) and Hemoglobin A1c (HbA1c) levels, and hypertension. Whereas one patient from the third generation manifestated PCOS. Mutational analysis of the whole mitochondrial genes from the affected individuals identified a set of genetic variations belonging to East Asia haplogroup B4b1c. Among these variants, the homoplasmic C3275T mutation disrupted a highly evolutionary conserved base-pairing (28A-46C) on the variable region of tRNALeu(UUR), whereas the T4363C mutation created a new base-pairing (31T-37A) in the anticodon stem of tRNAGln, furthermore, the A8343G mutation occurred at the very conserved position of tRNALys and may result the failure in mitochondrial tRNAs (mt-tRNAs) metabolism. Biochemical analysis revealed the deficiency in mitochondrial functions including lower levels of mitochondrial membrane potential (MMP), ATP production and mtDNA copy number, while a significantly increased reactive oxygen species (ROS) generation was observed in polymononuclear leukocytes (PMNs) from the individuals carrying these mt-tRNA mutations, suggesting that these mutations may cause mitochondrial dysfunction that was responsible for the clinical phenotypes. Taken together, our data indicated that mt-tRNA mutations were associated with MetS and PCOS in this family, which shaded additional light into the pathophysiology of PCOS that were manifestated by mitochondrial dysfunction.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Gene - Volume 642, 5 February 2018, Pages 299-306
Journal: Gene - Volume 642, 5 February 2018, Pages 299-306
نویسندگان
Yu Ding, Bo-Hou Xia, Cai-Juan Zhang, Guang-Chao Zhuo,