Using a new system of genetic editing based on bacterial proteins by researchers from MIT cured rare liver disease caused by a single genetic mutation.

The findings described in the edition of Nature Biotechnology, provide the first evidence that the technique of editing of a gene known as CRISPR, can reverse disease symptoms.

CRISPR, which offers an easy way to crop the mutated DNA and replacement with the correct sequence has the potential to treat many genetic diseases, according to the research team.

Recently developed CRISPR system relies on cellular mechanism that bacteria use to protect themselves from viral infection.

Researchers have copied this cell system for the creation of gene-editing complexes, including DNA.

They are cut enzyme called Cas9, bound to the RNA strand, which can be programmed to bind to a specific genomic sequence.

Meanwhile, researchers deliver DNA template strand.

When repairing cell damage resulting from Cas9, scientists introduced the template DNA in the genome.

Scientists predict that this type of revision of the genome one day could help in the treatment of diseases such as hemophilia, Huntington's disease, and the like, caused by a single mutation.

There are other systems developed on the basis of genetic editing of DNA enzymes known as nucleases, but these complexes can be expensive and difficult to assemble.

In contrast, CRISPR is very easy to configure and customize equipment.

The hemoglobin molecule is composed of four polypeptide chains of the protein globin. In addition, all of these chains contain nonprotein ferruginous material - heme, which has a direct role in the binding and transport of oxygen.

Globinat is a protein such as albumin, that contain amino acid residues. Hema and globinat influence. Globinat alters the properties of heme so as to bind the oxygen. HEMA provides stability of globin against the action of acids, temperature, the action of enzymes and specific features of the crystallization thereof.

In adults, 98% of the hemoglobin type A (HbA), in the fetus and newborn is mostly type F (HbF), which in the first days after birth, changes in HbA.

Congenital disorders and diseases of the hematopoietic system appear abnormal types of hemoglobin as methemoglobin, which is unable to carry oxygen. In blood of healthy persons methaemoglobin in minor amounts. Methaemoglobin binds with hydrocyanic (senile) acid and other substances, so is used in medicine in such poisoning.

Normal hemoglobin levels in men ranged from 135-160 g / l in women - 120-140 g / l

Formation and decomposition of hemoglobin
The biosynthesis of hemoglobin was obtained in young erythrocytes, which penetrate into the iron atoms. Globinat formed from amino acids, i.e. at the usual time of synthesis of proteins.

Disintegration of hemoglobin begins in erythrocytes, which are at the end of their life cycle. In the process of decomposition to yield derivative verdoglobin having green color. It is unstable and falls apart easily. Heme disintegrates in cells of the liver, bone marrow and spleen to form yellow pigments. In this process, the iron atoms were removed, which again is connected with the erythrocytes to form new molecules heme.

Properties of hemoglobin
The main biological role of hemoglobin is its participation in the process of exchange of gaseous substances from the environment and the body. Hemoglobin provides oxygen transport in the blood from the lungs to the tissues and transport of carbon dioxide from the tissues to the lungs. The similarity of the hemoglobin molecule oxide is three times greater than with the oxygen molecules, which determines the properties of high toxic carbon monoxide. Therefore, when the concentration of carbon monoxide in the air of 0,1% more than half of hemoglobin in the blood is not bound with oxygen and carbon monoxide. In this form carboxyhemoglobin which can not transport oxygen.

Another important function of hemoglobin is that of maintaining the acid-base balance in the body.

Changes in hemoglobin
Upon failure of the hemoglobin in erythrocytes disrupting metabolism in cells. Low hemoglobin specific for iron deficiency anemia, which most commonly are caused by chronic blood loss or poor nutrition, especially when excludes the consumption of animal protein.

High hemoglobin may be normal or physiological phenomenon feature of the disease. For example, in people living in high mountains register compensatory increase in the level of hemoglobin in the blood, due to the reduced content of oxygen in the air.

Deficiency of some B vitamins leads to changes in the blood with high hemoglobin and decrease the number of red blood cells - malignant anemia. In certain cardiovascular and pulmonary disorders also can be observed high hemoglobin (the number of red blood cells but does not change), since disturbed blood flow in tissues do not receive oxygen.

Hemoglobin is one of the most important health indicators and indicators of change should seek competent medical opinion.

Stem cells are the progenitors of all tissues and organs in our body. They are versatile building material , without which our body could not grow and develop, or to recover from injuries and diseases.
 
When expecting a baby , we are able to derive stem cells at birth.
 
Stored under special conditions , they can keep their valuable properties for years, thus becoming an important resource for the future treatment of the child and his family.
 
Two types of cells can be extracted at birth - hematopoietic ( blood from the umbilical cord ) and mesenchymal ( tissue from the umbilical cord ) . They are not interchangeable - the qualities and applications vary widely .
 
Stem cells are used in medicine for more than half a century , the most popular example of such treatment is bone marrow transplantation.
 
The cells from cord blood are very similar to those in the bone marrow , but they are superior in many respects - they have a higher potential , which allows the use of lower doses and less mature , thus making it possible to use them in a lower degree of compatibility and lowers the risk of rejection .
 
Approved therapies is constantly growing in the last decade the number has doubled. Underway are hundreds of new trials as a basis for life-saving treatment of malignant blood diseases , medicine Pinning Hopes on these cells and diagnoses affecting quality of life, such as cerebral palsy and type 1 diabetes.
 
Today there is still a large group of applications - that of regenerative medicine , one of the newest and fastest growing share of medical science that uses stem cells to restore its own tissues and organs of the patient.
 
Cells stored at birth, can be used both for the child and family members , when a sufficient degree of compatibility. Six of the ten samples transplanted cord blood in the world are used to treat a sibling or parent. Complete matching antigens can be expected only in identical twins .
 
In all other cases there is no 100% guarantee.
 
Collection of blood and tissue from the umbilical cord to extract stem cells at birth is easy and painless procedure that poses no risk either to the mother or the baby.
 
It is carried out by our own team of bank storage and does not violate the normal course of work on the midwifery team. The quantity of cells is different for every baby and reliable performance every step of the collection and laboratory processing of the sample is crucial for the quality of her
 
It is necessary to make an informed choice by examining the procedures and conditions of the various banks. First you must make sure that the necessary registrations and licenses.
 
Stem cell in the country are governed by detailed regulations and the right to perform them only have tissue banks with a valid authorization from the Executive Agency for Transplantation at the Ministry of Health.
 
The financial side is often a major criterion for many families , so it is better to check whether all costs are included in the price .
 
In our society there is an underlying view that the storage of umbilical stem cells is prohibitively expensive , boutique service units wealthy parents. Indeed, in the first years in which these services into Bulgaria , the cost of processing and storage for 20 years often was relatively much higher than the cost of similar services abroad. Today this is not so .

Investment in reliable modern equipment , attracting a team of established professionals with experience and positive growth of competition significantly contributed to the ability to offer affordable and reasonable price for a really very specific and high-tech service.

The ease of future parents, this service is offered at several possible financial schemes with 50% discount for the second twin , as well as a second contract with the bank.
 
What is more important than the price , however , is the reliability of the process of making , transporting , testing, laboratory processing and storage of the cells. Significant advantage by banks that have terms to perform critical processing of cells -the-art technology with the shortest possible stay after birth.
 
To ensure the security of storage throughout the term of the contract are necessary stkriktni systems for access control and temperature regime .
 
Each banking cord blood can be used for therapy , whether private banking or extracted from public banks - the only requirement is a sufficient degree of histocompatibility . The advantage of private banking family in this case is that kinship transplants have shown better results than unrelated .
 
It should be borne in mind that to a large extent histocompatibility complex indicates greater similarity in the same ethnic group . This means that in practice for patients from smaller ethnic groups such as Bulgarian is much more difficult to find a suitable donor in the big banks and donor pools.

In need of autologous stem cell therapy umbilical cord only option is private banking family , as only this way the stored cells remain the exclusive property of the child and are available for future use. Reliable private stem cell banks have technological solutions and control systems using a risk of loss of the sample is minimized.
 
Widely discussed disadvantage of private banking is that it is not free - in fact , however, the use of bone marrow donor is not free , nor extraction of stem cells from peripheral blood.

I. Definition

Erythropoietin is glikoproteid hormone that is a growth factor with respect to erythropoiesis . Human erythropoietin is a polypeptide consisting of 165 amino acids. It can stimulate alone or with the participation of other cytokines , growth and development of the precursors of erythrocytes in the bone marrow , causing an increase in the number of red blood cells.

90% of erythropoietin in adults is synthesized and secreted by interstitial cortical kidney fibroblasts , in response to a reduced supply of oxygen to the tissues . The remaining 10 % of EPO are synthesized by hepatocytes and Ito- interstitial cells of the liver ( relevant in the fetal and perinatal ) . Erythropoietin secretion is controlled by the level of oxygen saturation of the blood. Under conditions of hypoxia ( lack of oxygen to cells and tissues ) , erythropoietin plasma increases. Hypoxia may be caused by anemia , reduced oxygen - carrying capacity , decreased oxygen saturation of the hemoglobin molecules and the like. There is an assumption that there is a reverse correlation between the serum levels of EPO and the amount of red blood cells.
 

Additional features of EPO nehemopoetichni : can induce vasoconstriction and hypertension associated with that stimulates angiogenesis and proliferation of smooth muscle fibers, may increase the absorption of iron by the inhibition of the hormone hepsidin . Studies have reported that EPO influences neuronal protection in conditions of hypoxia (e.g. stroke , etc.) , improves memory . Administration of EPO may be effective for treating depression.

II. Test method:

 
ELISA " sandwich principle." EPO ELISA assay using two different mouse monoclonal antibodies specifically directed against different regions of the human EPO .
 
III. Content and clinical significance :

Clinical indications for the study of indicators:
 - Diagnosis and differential diagnosis of anemia and polycythemia ;
 - To help predict and monitor the response to treatment with recombinant erythropoietin in patients with anemia ;

Quantification of EPO serum aid in the diagnosis and differential diagnosis of anemia and erythrocytosis .

1. Anemia :
 Aplastic , haemolytic and iron deficiency anemia - the values ​​of EPO were increased ;
 
 Anemia of kidney disease and certain other diseases ( e.g., AIDS), - the values ​​of EPO are low ;

Low , the concentration of EPO may be an early signal of kidney transplant rejection .

EPO can also be used for monitoring of patients with AIDS of AZT- therapy . The increase in EPO in these patients is a signal that anemia in ongoing AZT- therapy due to hypoplasia / aplasia of the red blood cell .

2 . Upon erythrocytosis :
Polycythemia vera (primary erythrocytosis ) is a result of autonomous proliferation of the 3 lines of blood , with prevalence of erythropoiesis . In these cases, values ​​of EPO are low.

Secondary polycythemia ( poliglobulii ) if it is off dehydration (relative erythrocytosis ) is due to the increase in EPO ( secondary stimulation eritopoezata ) due to various reasons :
Individual elevated EPO - in paraneoplastic syndromes ( with hypernephroma , ovarian carcinoma , tumors of the cerebellum and the like . , In these cases, the EPO may be used as a tumor marker ) in polycystic kidney disease , familial erythrocytosis ;
 
Compensatory increase in EPO - in hypoxia (residing at high altitudes , pulmonary disease , heart disease ) , Disability hemoglobin ( congenital methemoglobinemia , carboxyhemoglobin ) medications ;

For diagnostic purposes , the test results should always be assessed in accordance with the patient's history , clinical and other studies .
 
IV. Material for testing : serum

Important requirements for sampling : it is blood clotting retrahirane clot to become 2 - 8 ° C or on ice. Samples coagulated at room temperature can produce lower amounts of EPO . The separated serum after centrifugation was frozen at -15 ° C or lower temperature , and thus is transported , if needed.