Genetic Mutations: Causes, Consequences, and Strategies for Prevention and Correction – Innovation in Genetics and Health

In the field of genetics and biotechnology, genetic mutations are fundamental to understanding the origin of numerous genetic diseases and their implications for health. This article analyzes the causes of mutations, their relationship to various pathologies, and the innovative strategies—such as gene therapy and the CRISPR/Cas9 system—being developed to prevent and correct these errors. Keywords in this article include: genetic mutations, genetic diseases, gene therapy, CRISPR/Cas9, genetic diagnosis, gene editing, disease prevention, innovation in genetics.

Causes of Genetic Mutations

1. Errors During DNA Replication

During cell division, DNA replicates with high precision; however, errors can occur that generate changes in the genetic sequence. These errors, despite correction mechanisms, accumulate and can lead to genetic mutations that predispose to various diseases.

2. Environmental Mutagenic Agents

Exposure to radiation (such as ultraviolet radiation and X-rays), toxic chemicals, and certain viruses can induce alterations in DNA. These mutagenic agents damage the structure of genetic material, triggering changes that can underlie complex diseases .

3. Inherited and Epigenetic Factors

Some mutations are inherited from parents and form the basis of various hereditary diseases . Likewise, epigenetic modifications—which alter gene expression without changing the DNA sequence—also influence the development of pathological conditions.

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Relationship Between Mutations and Diseases

Genetic mutations can range from minor effects to serious diseases, including:

• Cancer:

Alterations in oncogenes and tumor suppressor genes can lead to uncontrolled cell proliferation, causing different types of cancer .

• Hereditary Diseases:

Clear examples are sickle cell anemia and cystic fibrosis, where specific mutations in critical genes are responsible for the pathology.

• Neurodegenerative Disorders:

Changes in DNA can contribute to the development of diseases such as Alzheimer's or Parkinson's, affecting cell repair and neuronal function.