Role of Growth Factors and Apoptosis Proteins in Cognitive Disorder Development in Patients with Duchenne Muscular Dystrophy

Mariia Georgievna Sokolova, Ekaterina Valentinovna Lopatina
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Abstract

Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disease; it occurs due to a mutation in the dystrophin protein gene; as a result, the protein is not synthesized and muscle tissue dies. On the one hand, we can say that this disease has been sufficiently studied; however, it is still incurable, and there are a number of issues remaining unclear in terms of the development of progressive dementia as a symptom in 30% of patients with Duchenne muscular dystrophy. We conducted a study at the intersection of molecular genetic, neurological, and enzyme-linked immunosorbent patients’ blood tests and experiments in organotypic culture, which allowed us to determine important points in the development of cognitive disorders in patients with Duchenne muscular dystrophy and identify a significant effect of growth factor concentration in patients. The chapter will present data on neurotrophic regulation in patients with Duchenne muscular dystrophy (by the best-studied neurotrophins), demonstrate special aspects of neuron-myocyte interaction, and broaden the understanding of the role of apoptosis and synthase proteins in the development of this disease. We would like to highlight the importance of prognostic criteria for the development of cognitive impairment and possible therapeutic measures to prevent progressive dementia
生长因子和凋亡蛋白在杜氏肌营养不良患者认知障碍发展中的作用
杜氏肌营养不良(DMD)是一种进行性神经肌肉疾病;它的发生是由于肌营养不良蛋白基因的突变;结果,蛋白质无法合成,肌肉组织死亡。一方面,我们可以说这种疾病已经得到了充分的研究;然而,它仍然是无法治愈的,并且在30%的杜氏肌营养不良症患者中发展为进行性痴呆的症状方面,还有一些问题尚不清楚。我们在分子遗传学、神经学和酶联免疫吸附患者的血液检查和器官型培养实验的交叉点上进行了一项研究,这使我们能够确定杜氏肌营养不良患者认知障碍发展的重要点,并确定生长因子浓度对患者的显著影响。本章将介绍杜氏肌营养不良患者的神经营养调节数据(通过研究最好的神经营养因子),展示神经元-肌细胞相互作用的特殊方面,并扩大对细胞凋亡和合成酶蛋白在该疾病发展中的作用的理解。我们想强调认知障碍发展的预后标准和预防进行性痴呆的可能治疗措施的重要性
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