Types of hereditary diseases
human hereditary disease called such pathological condition caused by a change in the genetic material.If these changes occur in the elementary units of heredity are called genes, then there monogenic or Mendelian hereditary disease, namely heritage according to the rules, the discovery of which is attributed to Gregor Mendel.
B can cause diseases such as achondroplasia, at which the defeat of the skeleton, family polycystic kidney disease, congenital cataract, Marfan syndrome (skeletal damage, heart, eyes), hereditary pancreatitis, cystic fibrosis (systemic failure as examples of monogenic hereditary disease, which manifests itself,As a rule, chronic obstructive bronchopulmonary process and a violation of the gastrointestinal tract), phenylketonuria, manifested mental retardation and mental illness, adenomatous polyposis colon cancer, hemophilia.If
changes affect the chromosome which are located in almost all the genes and lead to changes in the number or structure of chromosomes, chromosome diseases
If changes occur in the mitochondrial DNA, it leads to mitochondrial diseases.Examples of these are the optic nerve atrophy, external ophthalmoplegia, mitochondrial myopathy syndromes myoclonus epilepsy and ragged red muscle fibers.Most of monogenic hereditary diseases are rare.
addition to hereditary diseases also relate adopted such diseases in development of which appears to be equally important as genes and environmental factors.They are called multifactorial diseases, since they depend on the actions of a number of factors, both genetic and of exogenous, and include all chronic non-communicable diseases such as diabetes, atherosclerosis, asthma, as well as isolated congenital malformations.The frequency of these diseases in the population is very high.Suffice it to recall that atherosclerosis and coronary heart disease are on one of the first places as the cause of death.In addition, to distinguish between diseases caused by the action of mainly environmental factors.These include trauma, frequent infectious diseases, which almost everyone gets sick.However, many researchers believe that the emergence of these diseases is also dependent on the genetic constitution, though to a small extent.It is known that even during epidemics of the population do not become ill, having a genetically caused immune to the corresponding infection.
enough actual examples of modern medicine is AIDS.It is found that individuals with a particular form of a gene (gene chemokine receptor) reduced susceptibility to the acquired immunodeficiency virus.This classification entire human pathology into separate groups depending on the importance of genetic factors in the etiology and pathogenesis of human diseases is undoubtedly one of the most important achievements of medical genetics.