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Pathway-based classification of genetic diseases

机译：基于途径的遗传疾病分类

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In medical genetics, diseases are classified according to the nature (hypothetical nature) of the underlying genetic defect. The classification is "gene-centric" and "factor-centric"; a disease may be, thereby, designated as monogenic, oligogenic or polygenic/multifactorial. Chromosomal diseases/syndromes and abnormalities are generally considered apart from these designations due to distinctly different formation mechanisms and simultaneous encompassing from several to several hundreds of co-localized genes. These definitions are ubiquitously used and are perfectly suitable for human genetics issues in historical and academic perspective. However, recent achievements in systems biology have offered a possibility to explore the consequences of a genetic defect from genomic variations to molecular/cellular pathway alterations unique to a disease. Since pathogenetic mechanisms (pathways) are more influential on our understating of disease presentation and progression than genetic defects per se, a need for a disease classification reflecting both genetic causes and molecular/cellular mechanisms appears to exist. Here, we propose an extension to the common disease classification based on the underlying genetic defects, which focuses on disease-specific molecular pathways. The basic idea of our classification is to propose pathways as parameters for designating a genetic disease. To proceed, we have followed the tradition of using ancient Greek words and prefixes to create the terms for the pathway-based classification of genetic diseases. We have chosen the word "griphos" (γρ?Φο?), which simultaneously means "net" and "puzzle", accurately symbolizing the term "pathway" currently used in molecular biology and medicine. Thus, diseases may be classified as monogryphic (single pathway is altered to result in a phenotype), digryphic (two pathways are altered to result in a phenotype), etc.; additionally, diseases may be designated as oligogryphic (several pathways are altered to result in a phenotype), polygryphic (numerous pathways or cascades of pathways are altered to result in a phenotype) and homeogryphic in cases of comorbid diseases resulted from shared pathway alterations. We suppose that classifying illness this way using both "gene-centric" and "pathway-centric" concepts is able to revolutionize current views on genetic diseases.
机译：在医学遗传学中，根据潜在的遗传缺陷的性质（假设性质）分类疾病。分类是“基因中心”和“因子为中心”;由此，疾病可以被称为单一的单一的，寡核酸或多型/多术。染色体疾病/综合征和异常通常被认为是由于不同的形成机制和同时包含几到几百个共局化基因的指定。这些定义是普遍存在的，并且完全适用于历史和学术角度的人类遗传问题。然而，系统生物学的最近成就提出了可能探讨遗传缺陷从基因组变异对疾病独有的分子/细胞途径改变的后果。由于致病机制（途径）对我们对疾病呈递和进展的低于本身的病程而言，需要反映反映遗传原因和分子/细胞机制的疾病分类。在这里，我们提出了基于潜在的遗传缺陷的常见疾病分类的延伸，这些遗传缺陷侧重于疾病特异性分子途径。我们分类的基本思想是提出途径作为指定遗传疾病的参数。要继续，我们遵循了使用古希腊词语的传统，以创建遗传疾病的途径分类的术语。我们选择了“Griphos”一词（γρ？φοθ），其同时意味着“净”和“拼图”，准确地象征着目前用于分子生物学和药物的术语“途径”。因此，疾病可以被归类为单起（改变单个途径以导致表型），凹肾（两种途径被改变导致表型）等;另外，可以将疾病指定为寡核（几种途径被改变为导致表型），在共用途径改变中的共用途径导致的情况下，在共用途径发生的情况下，改变多种途径以导致表型），并且在合并疾病引起的情况下，随着同血管疾病的情况下的家用术。我们假设使用“基因中心”和“途径中心”概念以这种方式进行分类疾病，该概念能够彻底改变目前对遗传疾病的看法。

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