کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8687794 | 1580949 | 2018 | 34 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Anatomic & metabolic brain markers of the m.3243A>G mutation: A multi-parametric 7T MRI study
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کلمات کلیدی
ADLEPICBFIQRFWHMSNRLEUCGMCNRMELASOXPHOS7T MRIROIASLSLESUHFWMLsMitochondrial DNA - DNA میتوکندریاMANOVA - انتخاب کنیدmultivariate analysis of variance - تجزیه و تحلیل چند متغیره واریانسTesla - تسلاecho planar imaging - تصویر برداری اکو فلاریsubstantia nigra - توده سیاهcerebral blood flow - جریان خون مغزیmtDNA - دیانای میتوکندریاییUltra-high field - زمین فوق العاده بالاCerebral Spinal Fluid - سیالات مغزی نخاعیWhite matter lesions - ضایعات ماده سفیدFull-width Half Maximum - عرض کامل نصف حداکثرRadio frequency - فرکانس رادیوOxidative phosphorylation - فسفوریلاسیون اکسیداتیوLeucine - لوسینGray matter - ماده خاکستریCortical gray matter - ماده خاکستری قورباغهwhite matter - ماده سفیدarterial spin labeling - مارک اسپین شریانیCSF - مایع مغزی نخاعیinterquartile range - محدوده بین محدبBrain - مغزregion of interest - منطقه مورد نظرMitochondrial - میتوکندریاMidd - میدSignal-to-noise ratio - نسبت سیگنال به نویزContrast-to-noise ratio - نسبت کنتراست به نویزcaudate nucleus - هسته دم دارDentate nucleus - هسته دندانه دارred nucleus - هسته قرمزPutamen - پوسته، پوتامنquantitative - کمیGlobus pallidus - گوی رنگ پریده، گلوبوس پالیدوس
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
روانپزشکی بیولوژیکی
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
One of the most common mitochondrial DNA (mtDNA) mutations, the A to G transition at base pair 3243, has been linked to changes in the brain, in addition to commonly observed hearing problems, diabetes and myopathy. However, a detailed quantitative description of m.3243A>G patients' brains has not been provided so far. In this study, ultra-high field MRI at 7T and volume- and surface-based data analyses approaches were used to highlight morphology (i.e. atrophy)-, microstructure (i.e. myelin and iron concentration)- and metabolism (i.e. cerebral blood flow)-related differences between patients (Nâ¯=â¯22) and healthy controls (Nâ¯=â¯15). The use of quantitative MRI at 7T allowed us to detect subtle changes of biophysical processes in the brain with high accuracy and sensitivity, in addition to typically assessed lesions and atrophy. Furthermore, the effect of m.3243A>G mutation load in blood and urine epithelial cells on these MRI measures was assessed within the patient population and revealed that blood levels were most indicative of the brain's state and disease severity, based on MRI as well as on neuropsychological data. Morphometry MRI data showed a wide-spread reduction of cortical, subcortical and cerebellar gray matter volume, in addition to significantly enlarged ventricles. Moreover, surface-based analyses revealed brain area-specific changes in cortical thickness (e.g. of the auditory cortex), and in T1, T2* and cerebral blood flow as a function of mutation load, which can be linked to typically m.3243A>G-related clinical symptoms (e.g. hearing impairment). In addition, several regions linked to attentional control (e.g. middle frontal gyrus), the sensorimotor network (e.g. banks of central sulcus) and the default mode network (e.g. precuneus) were characterized by alterations in cortical thickness, T1, T2* and/or cerebral blood flow, which has not been described in previous MRI studies. Finally, several hypotheses, based either on vascular, metabolic or astroglial implications of the m.3243A>G mutation, are discussed that potentially explain the underlying pathobiology. To conclude, this is the first 7T and also the largest MRI study on this patient population that provides macroscopic brain correlates of the m.3243A>G mutation indicating potential MRI biomarkers of mitochondrial diseases and might guide future (longitudinal) studies to extensively track neuropathological and clinical changes.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: NeuroImage: Clinical - Volume 18, 2018, Pages 231-244
Journal: NeuroImage: Clinical - Volume 18, 2018, Pages 231-244
نویسندگان
Roy A.M. Haast, Dimo Ivanov, Rutger J.T. IJsselstein, Suzanne C.E.H. Sallevelt, Jacobus F.A. Jansen, Hubert J.M. Smeets, Irenaeus F.M. de Coo, Elia Formisano, Kâmil UludaÄ,