Genetic Diseases

Genetic diseases or disorders result from changes or mutations in an individual’s DNA. A mutation is a change in one or two of the letters (nucleotides) of a gene. This can be considered as a spelling mistake. Genes encode proteins that are responsible from cellular activities and many of the cellular components are also proteins. Together, when worked properly, these proteins help an individual to live a healthy life. If a gene is mutated, then the protein product of that gene is also defected; and this may cause a disease.

Genetic diseases are hereditary when their causative mutations have been passed from parents’ sex cells. Some of the genetic diseases are called as Mendelian diseases. Such diseases appear when only one gene has been mutated. Usually, such diseases are rare diseases. Huntington’s disease and cystic fibrosis can be given as examples.

Many of the genetic diseases are a result of many factors. Such diseases appear when several environmental factors trigger mutations in several genes. These mutations occur in somatic cells of the body. Cardiovascular diseases, cancer, and diabetes can be given as examples.

Examples of Several Prenatal and Postnatal Genetic Diseases;

  • Thalassemia and other hereditary blood diseases,
  • Cancer,
  • Muscular diseases,
  • Intellectual disabilities,
  • Endocrine disorders and developmental retardation,
  • Diabetes,
  • Neurological diseases,
  • Cardiovascular diseases,
  • Kidney diseases,
  • Familial Mediterranean Fever (FMF),
  • Infertility,
  • Miscarriage,
  • Side effects of drugs,
  • Metabolic disorders

Changes in Our Genetic Structure May Cause:

  • Susceptibility to cancer (this is also related to environmental factors)
  • Susceptibility to familial diseases such as Alzheimer’s disease
  • Susceptibility to cardiovascular diseases
  • Susceptibility to osteoporosis

Diagnosis and Follow-Up of Genetic Diseases

The presence of genetic disease(s) and genetic susceptibilities is a risk for both individuals and their offspring. When a genetic disease is present in an individual, the individual should immediately receive genetic diagnosis and treatment. If applicable, prenatal genetic tests should also be recommended.