What causes genetic diseases


2018-03-17 23:15:53




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Genetic diseases include a large group of diseases that result from changes in the structure of the gene. Let's find out what is the causes of development of such pathologies.

Genetic illness in the majority caused by mutations in structural genes that carry out its function through synthesis of polypeptides in other words – of proteins. Any gene mutation causes a change in the structure or amount of protein.

These diseases start with a primary effect of the mutant allele. If you try to illustrate gene mutations person in the beginning will stand the mutant allele, which flows into a modified primary product, resulting in the cell runs a chain of biochemical processes that result in leading to changes in organs and tissues, and then the whole body.

Treating genetic disease at the molecular level, it is possible to distinguish the following options:

- output excess amount of gene product

protein synthesis abnormal

- lack of development,

- and articulating a reduced amount of the primary product.

Genetic disease does not end at the molecular level. Their pathogenesis continues its development at the cellular level. In this regard, it is worth noting that the point of application of the action of the changed gene in various diseases can be as the bodies in General, and individual cellular structures such as membranes, peroxisomes, lysosomes, mitochondria.

An Important feature of genetic abnormalities is that their clinical manifestations and also the speed and severity of the development is determined on the level of the genotype of the organism, environmental conditions, age of the patient, and the like.


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A Characteristic feature of genetic diseases is the heterogeneity. This suggests that the phenotypic manifestation of this disease may be due to different mutations occurring within the same gene or in different genes. This was first established back in 1934, a famous researcher in the field of genetics S. N. By davidenkov.

As for monogenic forms to genetic abnormalities, according to the laws of Mendel, they are inherited. In turn, monogenic forms can be divided according to the type of inheritance, namely autosomal recessive, autosomal dominant and sex-linked Y - or X-chromosomes.

All genetic diseases can be classified on several grounds, the most numerous group in this case would be hereditary diseases of metabolism. Almost all of them belong to the autosomal recessive type. The cause of these pathological States is insufficient quantity of a particular enzyme, which is responsible for the synthesis of amino acids. This includes such diseases as phenylketonuria, oculo-cutaneous albinism, and alkaptonuria.

Following a large group of genetic diseases associated with metabolic disorders. Glycogen storage disease, galactosemia – here are some examples that belong to this group.

The following is a pathology of direct relevance to lipid metabolism, namely – Gaucher disease, Niemann-pick disease and the like.

Genetic human disease, in addition to those already mentioned, are classified into

- a hereditary disease of pyrimidine and purine metabolism,

diseases associated with connective tissue disorders,

- inherited disorders of circulating proteins,

- diseases of direct relevance to the metabolic disorders in erythrocytes

- a hereditary pathology of the metabolism of metals

- as well as syndromes that cause disorders of the processes of absorption in the digestive system.

In addition to all the above we add that the establishment of the hereditary nature of the disease is based on clinical and genealogical method.

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Alin Trodden - author of the article, editor
"Hi, I'm Alin Trodden. I write texts, read books, and look for impressions. And I'm not bad at telling you about it. I am always happy to participate in interesting projects."

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