Drug-resistant M.tuberculosis strains are studied at NLA

Drug-resistant M.tuberculosis strains are studied at NLA

April 18, 2019

According to WHO data, every day about 4 500 people die from tuberculosis (TB) and 30 000 become sick with TB. Over the last decade, the medical community has faced difficulties in fighting tuberculosis due to the emergence of strains that are either extensively resistant to drugs or multidrug resistant.

Currently, Nazarbayev University scientists are conducting studies on tuberculosis, specifically examining how genetic level factors of tuberculosis may influence resistance to basic anti-tuberculosis drugs.   After genotyping the clinical isolates to identify M. tuberculosis genetic families, scientists at the Center for Life Sciences, PI ‘National Laboratory Astana’, identified seven main genotypes of tuberculosis strains distributed in Kazakhstan. 

W-Beijing family strains are the most commonly distributed kind in Asia and are associated with anti-tuberculosis drug resistance. We identified that this genotype prevails among cases of tuberculosis in Kazakhstan showing up in 60% of new cases and in 83% of recurrent cases.   – reported Ulan Kozhamkulov, a leading researcher of the Laboratory of Genomic and Personalized Medicine, PI ‘National Laboratory Astana’.

Beijing family strains spread frequently in Asian countries, although today strains of this family can be found globally and prevail among young people. Strains of Beijing family were first identified during the 1990s in New York (USA) during an outbreak of multidrug-resistant tuberculosis. The strains in this family were named in  1995, when discovery of M. tuberculosis isolates with the same characteristics were found in ‘Beijing’ China, where 92% of all isolates belonged to this family. Among European countries, W-Beijing strains are mostly distributed in Eastern Europe and former USSR countries.  

NLA researchers compared the genomes of clinical isolates of M. tuberculosis susceptible to anti-tuberculosis drugs with those of strains that are multidrug resistant and extensively drug-resistant.  During the comparative bioinformatics analysis comparing the different strains, they found in the drug-resistant strains four common genetic loci (PE_PPE family genes) that were absent in the susceptible strains.  Nazarbayev University scientists assume that these genes contribute to the extension of drug-resistant TB strains and may worsen disease symptoms of TB.  

Now the scientists are planning to compare the results on drug-resistant Kazakhstani strains with data available in international databases. This analysis will help in understanding the mechanisms of tuberculosis resistance to anti-TB drugs and contribute to the development of improved tuberculosis diagnostics, vaccines and new anti-tuberculosis drugs.

Thermo Fisher Scientific Demo Day  at NLA

Thermo Fisher Scientific Demo Day  at NLA

April 12, 2019

National Laboratory Astana and ZALMA Ltd. company organized  Thermo Fisher Scientific Demo Day, which  took place at Nazarbayev University yesterday.

During the seminar Thermo Fisher Scientific company representatives from Moscow delivered reports about new instruments, equipment, software, services to solve for complex analytical challenges in pharmaceutical, biotechnology, academic research, as well as the clinical laboratory.  Also in the framework of the Demo Day Equipment exhibition was hold. In the exhibition there was an opportunity to test  samples on the Thermo Fisher Scientific equipment.

It is known that Thermo Fisher Scientific is the world leader in serving science, with revenues of more than $24 billion and approximately 70,000 employees globally. The company helps customers accelerate life sciences research, solve complex analytical challenges, improve patient diagnostics, deliver medicines to market and increase laboratory productivity. Through their premier brands – Thermo Scientific, Applied Biosystems, Invitrogen, Fisher Scientific and Unity Lab Services – they offer an unmatched combination of innovative technologies, purchasing convenience and comprehensive services.

International conference dedicated to 10th anniversary of Center for Life Sciences to be held in Nur-Sultan

International conference dedicated to 10th anniversary of Center for Life Sciences to be held in Nur-Sultan

April 10, 2019

On May 20, 2020 NLA will host  the International Conference dedicated to 10th anniversary of Center for Life Sciences entitled "Modern challenges for biomedical sciences: from bench to bedside".  The three-day conference will gather together researchers from leading universities of neighboring countries and far abroad from the United Kingdom, Russia, China,  the U.S.A, South Korea, and Germany, senior management of research organizations, educational institutions, healthcare industry representatives, officials and representatives of government of Kazakhstan attend next year’s conference.

The purpose of the conference is to constitute a forum for many national and foreign research groups to integrate, dialogue, and discuss advanced achievements in gerontology, bioengineering and regenerative medicine, bioinformatics and systems biology, microbiome and metabolome. 

   

Sudden cardiac death: New genetic mutations discovered

Sudden cardiac death: New genetic mutations discovered

April 2, 2019

 NLA researchers have discovered new genetic factors associated with heart failure and sudden cardiac death.  Studying these genetic markers will help scientists to better understand heart disease, which could be used in the future to screen individuals for potential risks related to developing heart conditions. The results of this unique genetic research are published in the peer-reviewed scientific journal Plos One.

According to US cardiologists, sudden cardiac death is the cause of every fourth natural death worldwide. Sudden cardiac death is often due to the heart having problems pumping blood (ventricular  fibrillation), or to sudden spikes in pulse with over 150-300 heart beats per minute (paroxysmal ventricular tachycardia of the heart)[1]. 

Analysis of electrocardiograms from patients who died of sudden cardiac death shows that in 83.5% of cases the deceased had either ventricular arrhythmias, or less frequently bradycardia resulting in a cardiac asystole.  In about 5 to 12% of cases, sudden cardiac death occurred in previously asymptomatic and seemingly healthy people.  Based on these data, scientists are convinced that ventricular arrhythmias are associated with a high probability of developing fatal arrhythmias or the so-called “sudden arrhythmic death” – where the reason for heart failure is not always apparent.  

“Genetically determined diseases or channelopathies are associated with impaired flow of potassium or calcium ions in the muscle cells of the heart. They are also a major cause of heart failure and sudden cardiac death worldwide,” - says Ainur Akilzhanova, MD, PhD, Head of the Laboratory of Genomic and Personalized Medicine at National Laboratory Astana.

How do genetic factors and non-genetic factors such as environment and lifestyle affect the likelihood of developing heart disease?   Might certain genetic mutations predispose people to sudden cardiac death?  NLA genetic scientists attempted to answer these questions in a recent study of mutations of the ryanodine receptor-2 gene (RYR2).  The RYR2 gene is one of the key players tightly regulating calcium ions (Ca2 +) efflux from the sarcoplasmic reticulum (a part of cardiac myocyte where calcium ions are stored) to the cytosol.   Maintaining correct amounts of calcium ions throughout the body is important for heart muscle health and normal heart beating, and people with certain RYR2 mutations might have issues with proper calcium ion regulation.  Mutations in this gene have been linked to an inherited disorder that could result in life-threatening irregular heartbeats called catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1).

In the framework of the project, scientists studied the DNA of 70 Kazakhstanis looking for genetic mutations of the RYR2 gene.  Specifically, they examined the genes of 35 patients who had been diagnosed with different types of ventricular tachycardia and their family members.  Nazarbayev University scientists have discovered two novel and previously unknown genetic variants that can influence the development of ventricular tachycardia. In addition we identified a known variant previously associated with arrhythmogenic right ventricular dysplasia type2 (ARVD2).

Moreover, researchers evaluated the clinical significance of novel and rare genetic variants in the development of arrhythmias in Kazakhstani patients with diagnosed ventricular tachycardia and their healthy family members. These results will assess the risks of developing cardiac disease and sudden cardiac death in Kazakhstan and help doctors to develop measures for their prevention.

Dr. Akilzhanova noted that using genetic information to help treat CPVT is a fairly new approach that was not widely used until 2000.  In 2001, the role of mutations of the RYR2 gene in the development of CPVT1 was first proved. Heart Rhythm Society and the European Heart Rhythm Association recommend early genetic testing of family members because CPVT may present as SCD or Sudden Infant Death Syndrome as the first manifestation.  Nazarbayev University researchers emphasize that the clinical observation of patients carrying genetic factors will contribute to the understanding of further risk factors and their impact on the development of heart disease.

[1] The human heart consists of four separate chambers – the heart has a right and a left side, with upper (atria) and lower (ventricle) chambers.  All four chambers play an important role in pumping blood.