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|Название: ||Medical genetics. Contents module 4. Monogenic diseases. Diagnosis of disorders of sulphur-containing amino acids|
|Другие названия: ||Медична генетика. Змістовний модуль 4. Моногенні хвороби. Діагностика сірковмісних амінокислот|
|Авторы: ||Grechanina, E.Y.|
|Ключевые слова: ||Monogenic diseases.|
sulphur-containing amino acids
|Дата публикации: ||2013|
|Библиографическое описание: ||Medical genetics. Contents module 4. Monogenic diseases. Diagnosis of disorders of sulphur-containing amino acids : guidelines for students and interns / comp. : E. Y. Grechanina, Y. B. Grechanina, L. V. Molodan, E. P. Zdubskaya, E. V. Bugayova ; Kharkiv National Medical University. – Kharkiv : KhNMU, 2013. – 46 p.|
|Аннотация: ||Genomic human health is a foundation of psychic, somatic and reproductive health. This fact, which is proved by many world geneticists, was accepted by the society only after the approval of the role of inherent disorders in developing rare as well as common human diseases by WHO (World Health Organization) and EU approval in 1990. Health is programmed during the maturity of germ cells and at early stages of individual development and depends on the character of received from parents genetic information, as well as on environmental conditions, in which it is realized, and also on a great number of genes of (not parenteral) unknown origin. It is established that gene activity during human life depends on interaction with other genes, on environment and on genetic mechanisms of gene activity regulation.
Knowledge gained in the process of genome composition interpretation conveniences that molecular medicine will not give an expected result without studying clinical features of human diseases. Causative-consecutive relations in the pathogenesis of the inherent pathology can be established only by common efforts of clinicist, geneticist, biochemists, molecular geneticist and pharmogeneticist.
Molecular diagnosis is mostly considered in studying genome variety, this diagnosis is the one of the most important perspective area of genetics allowing to determine causes of the development of inherent diseases and mechanisms of their development with the use of the modern methods: sequencing, cloning, RFLP (restriction fragment length polymorphism)- analysis, chip-technologies. These studies are directed at solving fundamental scientific problems, which are connected with human origin, and at revealing gene differences, which are connected with human sensitivity and resistance to various diseases and environmental influence. New mutations and polymorphic sites can be found in studying the changes of nuclear DNA, as well as mitochondrial DNA (mtDNA). Polymorphic sites are gene regions, where mutations arose in the process of evolution and had an adaptive character. They can be transform from neutral mutation to conditionally pathogenic and lead to disease appearance that occurs in the case of bioenergy metabolism disorder (mitochondriopathy).
Studying polymorphisms of genes, which are predisposed to diseases of cardiovascular and central nervous systems acquires the great practical meaning in the modern condition of molecular medicine development. Sulfur containing amino acids (methionine, homocysteine, homocystine, cystationine, cysteine, cystine and taurine) become the centre of attention of geneticians. From our point of view, they influence on the realization of the function of many genes, which carry various information, because methionine is a donor of methyl groups, which take part in the epigenetic regulation of gene expression. That’s why there are new opportunities of adequate assessment of the role of sulfur containing amino acid (SCAA) metabolism in the appearance of various clinical signs. In the past, folate metabolism disorders were considered as an obvious cause of multifactorial defects of CNS (neural tube closure defects), nowadays we can speak about the systemic influence of such metabolism disorder.
These methodic recommendations are devoted to the problems of an early (including prenatal) diagnosis of disorders of SCAA metabolism, and also to questions about the treatment and rehabilitation of patients with different disorders of SCAA metabolism, designed for geneticians, pediatricians, surgeons, obstetrician-gynecologists, interns.
Biochemistry of sulfur-containing amino acids
Methionine is an essential sulfur containing amino acid which is included in the composition of proteins. The full characteristics of methionine is presented in Human Metabolone Database (HMD). That fact, that methionine is an evolutionally selected antioxidant, explains a wide range of pathology, which develops in metabolism disorder of this sulfur containing amino acid.
Methionine is essential for human development in accordance with his program. Metionine isn’t produced in the body, it is obtained from food and serves as a substrate for protein synthesis. Methionine has unique functions:
- Takes part in transamination reactions;
- Serves as a donor of methyl groups in synthesis of biologically active groups;
- Takes part in synthesis of nucleic acids;
Methionine is an acceptor of methyl for 5-methyltetrahydropholate-homocysteine methyl transferase (methionine transferase) in a single reaction, and also is a methyl acceptor in catabolism (Human Metabolome Database, 2005). Methionine is a precursor of cysteine, takes part in biosynthesis of the last one. Methionine sulfur converts in cysteine sulfur in the process of catabolism. Carbon skeleton of cysteine origins from serine. Figure 1 reflects conceptual biochemistry in methionine.|
|Располагается в коллекциях:||Навчально-методичні видання. Кафедра медичної генетики|
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