Molecular basis of hereditary diseases
General[edit | edit source]
Hereditary diseases represent an important group of human diseases, including, for example, various metabolic defects, immune disorders, hemoglobinopathy or selected congenital malformations. The cause of hereditary diseases is generally a disruption of a series of reactions leading from the genetic information (genotype) to the corresponding bodily function or characteristic (phenotype).
The general scheme showing the path from gene (or from DNA) to protein is referred to in molecular biology as the central dogma . A Mutation at the DNA level can significantly disrupt the normal sequence of reactions and often leads to the development of a pathological phenotype - i.e. to the development of the relevant disease.
- Normal state:
gene (DNA) → mRNA with standard sequence → functional protein → normal function/trait
Pathological condition:
Mutated gene (DNA) → mRNA with non-standard sequence → non-functional protein → damaged function/trait → disease
Of course, such a scheme is only a rough guide, in certain cases the transcription process itself is disturbed as a result of the mutation, and the disturbed function may not be caused only by a non-functional protein, but also by its lack.
- Examples
| defect type | examples of disabilities |
|---|---|
| enzyme defect | PKU, galactosemia, adenosine deaminase deficiency |
| receptor defect | testicular feminization, hypercholesterolemia |
| molecular transport defect | cystic fibrosis, hypertension |
| cell structure defect | Duchenne and Becker muscular dystrophy |
| defect homeostasis | antihemophilic globulin, immunoglobulins |
| growth and differentiation regulation defect | sex determination, X chromosome inactivation, tumor suppressors |
| intercellular communication defect | insulin, growth hormone, sex differentiation |
| defect mitochondria | Leber optic atrophy |
Links[edit | edit source]
Related Articles[edit | edit source]
- Mutation
- Principles of therapy for hereditary diseases
- Primary immunodeficiency
- Inherited metabolic disorders
Source[edit | edit source]
- ŠTEFÁNEK, Jiří. Medicína, nemoci, studium na 1. LF UK [online]. [cit. 11.02.2010]. <https://www.stefajir.cz/>.
