14. Outcomes of apoptosis inhibiting and activation.

Diseases dealt with apoptosis inhibiting:

1. Tumorogenic diseases:

-follicular lymphomas;

-mammal gland, ovaries, prostatic gland hormone-dependent tumors.

2. Autoimmune diseases:

• systemic red lupus;

• glomerulonephritis.

3. Viral infections:

• herpetic,

• adenoviral et al.

4. Diseases with hypereosinophilic syndrome:

• bronchial asthma;

• atopic dermatitis.

5. Neuroproliferative diseases:

• shyzophreny;

• autism.

Diseases delt with apoptosis activations:

1. AIDS (apoptosis of CD4+ cells – T-helpers, macrophages, gliocytes).

2. Neurodegenerative diseases:

• Alzheimer’s disease;

• Huntingtone’s disease (chorea);

• lateral amyotrophic sclerosis;

• parkinsonism;

• pigmentary retinitis;

• back muscles atrophy.

3. Blood diseases:

• myelodysplastic syndrome;

• aplastic anaemia.

4. Ishemic injury:

• myocardial infarction;

• stroke;

• reperfusive injury.

5. Liver toxic injuries.

6. Kidney diseases:

• polycystosis;

• wrinkled kidney.

7. Diabetes mellitus (death of pancreatic beta-insulas).

8. Atherosclerosis (fibroblasts, macrophages, smooth myocytes death in atherosclerotic plaque area).

15. HEREDITARY AS A CAUSE AND CONDITION OF DEVELOPMENT OF DISEASES. RELATIONS OF HEREDITARY AND ACQUIRED IN PATHOGENESIS. HEREDITARY AND CONGENITAL DISEASES, GENO- AND PHENOCOPIES. HEREDITARY DISEASES CLASSIFICATION.

Human being has several peculiarities as an object of genetics. Let us compare a human being as an object of genetic investigation with other “suitable” objects of classical gentics and trace the methods of these “drawbacks” mastering.

1. Easy crossing is typical for the objects of classical gentics and at the same time the crossing of humans is impossible under the experiment conditions, but there is an opportunity to select married couples with the investigated character.

2. Objects of classical genetics give a numerous posterity as a rule. A human being posterity is not numerous so statistic analysis is impossible. But one can select enough amount of families with a studied character for statastic analysis.

3. Objects suitable for a genetic analysis possess a moderate modification of signs under influjence of surrounding. A human being has a high degree of phenotypic polymorphism due to the influence of surrounding. But it is easier to study human phenotype using a wide range of anatomical, histological, physiological, biochemical, immunological methods.

4. Classical objects have a small amount of linkage groups. A human being has 22 linkage groups, X- and Y-chromosomes.

5. Objects suitable for genetics have a short life cycle and a rapid change of generations. Duration of a human beinf life is commensurable with investigators’s life. Change of generations takes place in 25-30 years. Simultaneously one can observe 3-4 generations. That is why there is a possibility to select and register pedigrees for a long time.

Inheritance is one of powerful predisposition of evolution. It is the basement of all manifestations in alve nature. Hereditary diseases – diseases the aethiological factor of which is mutation or hereditary structures (genes, chromosomes) disorders.

Sometimes heredity is only condition of sign or disease expression.

You have to remember that there are 2 kinds of sex-linkage:

1. Complete – when Y-chromosome is genetically inert.

2. Incomplete or partial – if there are gene alleles, located in X-chromosome, in Y-chromosome.

Holandric genes – ones located in Y-chromosomes that have no alleles in X-chromosome. They are inherited only from father to son. Examples:

• Hypertrichosis – ear hairiness (pilosity);

• syndactyly – membraneous fingers;

• muscle force genes;

• some height genes;

• some histoincompatibility antigens genes.

Genes defined sex characters ale located not only in sex chromosomes. There are characters the genes of which may stay in autosomes or sex chromosomes of both sexes but they are expressed only in one of them. Such characters are named limited by the sex. For instance, voice timbre in man is a good example of such characters. Baritone, bass, tenor are expressed in men but these characters are determined by autosomic genes both in men and in women.

At last, characters dependent from the sex – the characters determined by autosomic genes in men and women but their dominance is dependent from the sex hormones. Examples:

• baldness (its gene is dominant its recessive allele determine normal hair);

• gout (podagra) (male sex hormone increases its expression more than female ones).

Gene (molecular) diseases – diseases group different on its clinical manifestations caused by mutations on gene level. They are united in one ngroup on the basis of ethiologic genetic characteristics and thus inheritance regularities in families and populations. They are wide spread in the world. Their number was about 3500 (1996) if we analize them on clinical (phenotypic) point of view but their number from the gentic one is rather more.