Hrechanina O Ia, Hrechanina Iu B, Husar V A, Molodan L V
Lik Sprava. 2014 Nov(11):29-39.
Defined involvement lesions of the digestive system of clinical manifestations of mitochondrial dysfunction associated with both point mutations and polymorphism of mitochondrial DNA. The nature of the clinical signs of mtDNA polymorphisms carriers--multi organical, a progressive, clinical polymorphism, genetic heterogeneity with predominant involvement of energotropic bodies (cerebrum, cordis, hepatic). Set individual nosological forms of mitochondrial dysfunctions--syndromes Leia, Leber, Cairns, Sarah, MERRF, MELAS, NARP, MNGIE confirmed by clinical and genetic, morphological, biochemical, enzymatic, molecular genetics methods. It was found that 84-88% of these syndromes involving the violation of the digestive system with varying degrees of injury. This damage will be the first in the complex chain signs recovery which determines the direction of early rehabilitation.
线粒体功能障碍的临床表现与线粒体DNA的点突变和多态性相关，表现为消化系统的特定受累病变。线粒体DNA多态性携带者临床体征的性质——多器官性、进行性、临床多态性、遗传异质性，主要累及能量供应器官（大脑、心脏、肝脏）。通过临床、遗传、形态学、生化、酶学、分子遗传学方法确定了线粒体功能障碍的个体病种形式——莱亚综合征、勒伯综合征、凯恩斯综合征、莎拉综合征、肌阵挛性癫痫伴破碎红纤维综合征（MERRF）、线粒体脑肌病伴乳酸血症和卒中样发作综合征（MELAS）、神经源性共济失调和色素性视网膜炎综合征（NARP）、线粒体神经胃肠脑肌病（MNGIE）。研究发现，这些综合征中有84% - 88%涉及不同程度损伤的消化系统。这种损伤将是复杂体征恢复链中的首要环节，决定早期康复的方向。
