Analyzing the distinction and pathogenicity of gene mutations and chromosomal aberrations
10.20001/j.issn.2095-2619.20250618
- VernacularTitle:基因突变与染色体畸变的区别联系与致病性分析
- Author:
Maojin LI
1
Author Information
1. Beijing Prevention and Treatment Hospital of Occupational Disease / Beijing Institute of Occupational Disease Prevention and Treatment, Beijing 100093, China
- Publication Type:Review
- Keywords:
Gene mutation;
Chromosomal aberration;
Nuclear abnormality;
Nuclear dysfunction;
Gene expression regulation;
Chronic and refractory diseases;
Functional genes;
Silenced gene
- From:
China Occupational Medicine
2025;52(3):341-348
- CountryChina
- Language:Chinese
-
Abstract:
Gene mutations and chromosomal aberrations are both genotoxic damage with pathogenic potential. However, due to the different scope and breadth of the genetic material involved, the severity and pathogenicity of the harm in human body differed. The pathogenicity of gene mutations depends on cell type, gene type, tissue- and organ-specificity, and others. Mutations in the same gene also result in different outcomes depended on the type of mutation that occurred. Genetic mutations include silent, missense, and nonsense mutations. Silent mutation, which do not alter the structural function of proteins, are typically non-pathogenic. Missense mutation may be pathogenic if protein function is altered, otherwise they are usually non-pathogenic which are also called neutral mutation. Each cell in the human body selectively expresses a small number of genes. Mutations in silenced genes or noncoding regions are generally non-pathogenic. Therefore, some gene mutations are pathogenic or even fatal, but some are non-pathogenic. If they do cause dlisease, it mainly leads to single-gene diseases. Chromosomal aberrations usually involve large DNA segments or even entire chromosome gains or losses, affecting multiple genes, differentiation states, and gene expression and regulation, often leading to cell death or chromosomal disorders. Chronic refractory diseases such as aging, cancer, hypertension, diabetes, Alzheimer′s disease, and degenerative conditions may not be directly caused by genetic mutations and/or chromosomal aberrations. Instead, they likely result from nuclear damage, disruption of differentiation states, and abnormal gene expression/regulation, leading to impaired DNA transcription and protein synthesis. These diseases represent nuclear dysfunction or insufficiency, namely termed differentiation-collapse degenerative diseases. Gene mutations and chromosomal aberrations are thus often epiphenomena relate to manifestations or consequences of nuclear injury and dysfunction.
