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通过骨骼肌组织的核磁共振和近红外光谱评估线粒体功能的遗传疾病。

Genetic disease of mitochondrial function evaluated by NMR and NIR spectroscopy of skeletal tissue.

作者信息

Chance B, Bank W

机构信息

Johnson Research Foundation, Department Biochemistry and Biophysics, University of Pennsylvania, Philadelphia 19104-6089, USA.

出版信息

Biochim Biophys Acta. 1995 May 24;1271(1):7-14. doi: 10.1016/0925-4439(95)00003-m.

DOI:10.1016/0925-4439(95)00003-m
PMID:7599229
Abstract

Bioenergetic sufficiency can be quantitatively assayed by nuclear magnetic resonance spectroscopy (MRS) and on a relative basis by tissue optical spectroscopy (NIRS). Nuclear magnetic resonance measures quantitatively the fall of phosphocreatine and the rise of inorganic phosphate necessary to raise mitochondrial adenosine diphosphate and activate ATP synthesis to adequate level to meet metabolic demands. This relationship is readily demonstrated in skeletal muscle where the quality of supply and demand for ATP is observed over a wide range of aerobic exercise. Metabolic and genetic disease of mitochondria is readily detected by the rapid fall of PCR and rise of Pi during mild exercise and has been essential in the diagnosis and therapy of deficiency of cytochrome bc1 in human skeletal muscle. Insufficiencies of oxygen utilization in relation to oxygen delivery are readily measured optically by the simplest of dual wavelength spectrometers. Instead of deoxygenating hemoglobin during exercise in cases of normal bioenergetic function, a luxury perfusion or hyperoxygenation of skeletal muscles occurs in exercising the energetically deficient skeletal tissue. In this way, a simple screen for metabolic and mitochondrial disease of energy production has been established and demonstrated in a number of clinical cases. Thus, the combination of the absolute evaluations by NMR and the relative indications of light of spectroscopy (NIRS) form essential tools in detection of mitochondrial defects.

摘要

生物能量充足性可以通过核磁共振波谱法(MRS)进行定量测定,并通过组织光学光谱法(近红外光谱法,NIRS)进行相对测定。核磁共振定量测量磷酸肌酸的下降和无机磷酸盐的上升,这对于提高线粒体二磷酸腺苷并将三磷酸腺苷(ATP)合成激活到足以满足代谢需求的水平是必要的。这种关系在骨骼肌中很容易得到证明,在广泛的有氧运动范围内可以观察到ATP的供需质量情况。线粒体的代谢和遗传疾病很容易通过轻度运动期间磷酸肌酸(PCR)的快速下降和无机磷酸盐(Pi)的上升检测出来,这对于诊断和治疗人类骨骼肌中细胞色素bc1缺乏症至关重要。与氧输送相关的氧利用不足可以通过最简单的双波长光谱仪进行光学测量。在生物能量功能正常的情况下,运动期间血红蛋白不会脱氧,而是在对能量不足的骨骼肌组织进行运动时,骨骼肌会出现奢侈灌注或过度氧合。通过这种方式,已经建立了一种用于筛查能量产生的代谢和线粒体疾病的简单方法,并在一些临床病例中得到了验证。因此,核磁共振的绝对评估与光谱学(近红外光谱法)的相对指标相结合,形成了检测线粒体缺陷的重要工具。

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