Contact

Daria Pašalić
Editor-in-Chief
Department of Medical Chemistry, Biochemistry and Clinical Chemistry
Zagreb University School of Medicine
Šalata ul 2.
10 000 Zagreb, Croatia
Phone +385 (1) 4590 205; +385 (1) 4566 940
E-mail: dariapasalic [at] gmail [dot] com

Useful links

S5-1

Molecular diagnostics and the challenges of post-genomic era

Karmela Barišić. Molecular diagnostics and the challenges of post-genomic era. Biochemia Medica 2015;25(Suppl 1):S31-S32.

Department of Medical Biochemistry and Hematology, Zagreb University Faculty of Pharmacy and Biochemistry, Zagreb, Croatia

 

The lecture will discuss the challenges of modern molecular diagnostics in the period after the discovery of the overall sequence of the human genome.

The sequencing of the human genome is a scientific event that marked the end of the second and the beginning of the third millennium. Fifteen years later, a large amount of information is available to us on the individual DNA sequences stored in databases, which enables research of individual genomic variants. Their complexity is significantly greater than previously expected. It includes single nucleotide polymorphism (SNP), a variation in the number of copies (CNV), and epigenetic modification. Moreover, the RNA world (especially non-coding RNAs, microRNAs, transcripts of pseudogenes, alternatively spliced transcripts) becomes very attractive, either for research or for diagnostic and therapeutic applications.

High-throughput technology enables for analysis of genome, transcriptome, proteome, exome, metabolome, etc. in a short time. This possibility allows new perspectives in diagnosis and therapy, guiding them towards an individualized approach, i.e. personalized medicine.

e-mail: kbarisic [at] pharma [dot] hr

 

S5-2

Nutrigenomics – prevention or treatment

Daria Pašalić. Nutrigenomics – prevention or treatment.Biochemia Medica 2015;25(Suppl 1):S32-S34.

Department of Chemistry and Biochemistry, Zagreb University School of Medicine, Zagreb, Croatia

 

Daily nutrition provides absorption, transport, metabolism and excretion of nutritional stuffs and bioactive compounds which includes different protein classes. It is well known that proteins revealed different roles like enzymes, receptors, transporters, ion channels and hormones. Genetic variation, that encode specific proteins may lead to variation in protein functionality and thus to change in nutritional effects. It seems that this is up to date scientific knowledge but the art of eating foods for its medicinal value dates back more than 5000 years. The famous physician Hippocrates told (460 – 377 BC) “Let food be your medicine and medicine be your food.”

The study of the effects of foods and food constituents on gene expression investigates the molecular level of interactions between nutrients with the genome.

It is well known the role of laboratory medicine in diagnostics, as well as the role of nutrition in treatment of monogenic disorders like phenylketonuria and lactose intolerance Restriction of lactose-rich nutrients or phenylalanine-rich nutrients in patient who suffer from lactose intolerance or phenylketonuria, respectively, represent an excellent example how to treat monogenic disorders. But, it is greater challenge to investigate and define interaction between genes and nutrients of complex monogenic disorders like obesity, metabolic syndrome, diabetes mellitus, cancers and cardiovascular disorders. It is much more complicated to provide the exact guidelines in preventing a treatment of those disorders. Nutrition is mostly directed to decreasing the risk for polygenic disorders, to prevention of health people and treatment of patients in earlier stages of the disease. Therefore, it is very important to identify the biomarkers that indicate predisposition for disease, or those biomarkers which detect diseases in early stage of the disease. In that case it should be possible to decrease the risk with suitable nutritional recommendations.

Experience from clinical praxis showed that genetic variants contribute to susceptibility to disease through modulating the effects of individual’s physiology. For example, in treatment of metabolic syndrome, it was evidenced that the presence of common genetic variant at the FTO (fat mass- and obesity-associated gene) in interaction with environmental factors requires some specific nutritional treatment or so call personalized diet, adapted to personal genotype. It was evidenced that children faced with an unlimited supply of food who have genetic polymorphism in first intron of FTO-gene consumed more calories when compared to children without FTO-polymorphism.

One of the most significant finding in preventing of colon cancer is related to the investigation of the gene that encode vitamin D-receptor (VDR Fok 1 polymorphism) and calcium homeostasis. Namely, VDR Fok 1 genetic variant is associated with lower interactions between vitamin D and receptor, and it is associated with higher prevalence of colorectal carcinoma.

Fats in nutrition are often associated with different chronical disorders. According to the general perception, fats are something “negative” in foodstuffs, but scientific investigations showed that fats and different fatty acids have very important role in metabolism and health. For heath is much more important to provide an adequate ratio of different nutritional fats than reduction of fats.

Many clinical studies improved different group or individual response to “health nutrition”. Therefore, personalized diet and changing of life habits are significant factor in prevention and treatment of chronicle diseases.

e-mail: daria [dot] pasalic [at] mef [dot] hr

 

S5-3

Molecular diagnostics of chronic obstructive pulmonary disease

Lada Rumora. Molecular diagnostics of chronic obstructive pulmonary disease.Biochemia Medica 2015;25(Suppl 1):S34-S35.

Department of Medical Biochemistry and Haematology, Zagreb University Faculty of Pharmacy and Biochemistry, Zagreb, Croatia

 

Chronic obstructive pulmonary disease (COPD) is one of the most prevalent human health disorders in the world. It affects about 10% of the population over the age of 40 years and accounts for 3 million deaths worldwide annually. It is estimated that COPD will be the fourth leading cause of death in 2030.

Spirometry is still “the golden standard” in COPD diagnosis. The severity of airflow limitation (assessed by forced expiratory volume in 1 second (FEV1)) has been traditionally used to both diagnose and guide the therapy for patients with COPD. However, it has been shown that FEV1 poorly correlates with other clinically relevant characteristics of the disease, such as symptoms (dyspnea, chronic cough, sputum production), health status, exercise capacity, frequency of exacerbations, prevalence of comorbidities, or causes of death. Therefore, FEV1 alone does not describe the complexity of the disease, and other (bio)markers are needed in clinical practice to associate patients and significant clinical outcomes (e.g. risk of mortality, frequent exacerbations and/or response to adequate therapy regimes).

Cigarette smoking is the most common risk factor for COPD; however, only about 10-20% of smokers develop COPD during their lifetime. Thus, it is important to emphasize that COPD results from a gene-environment interaction. Among people with the same smoking history, not all will develop COPD due to differences in genetic predisposition to the disease. This has led to the concept that an abnormal inflammatory response to cigarette smoking is responsible for the development of COPD in the susceptible individual.

The genetic risk factor that is best documented is a severe hereditary deficiency of alpha-1 antitrypsin (AAT), also named a1 proteinase inhibitor (a1-Pi) and SERPINA1 (serine protease inhibitor, group A, member 1), which is the major circulating inhibitor of serine proteases. However, only 1-2% of patients with COPD inherit this ATT deficiency; hence other genes are believed to play a role in most COPD cases. Genes involved in the protease/antiprotease balance, inflammatory genes and antioxidant genes were proposed and explored as COPD candidate genes.

In addition, several genome-wide association studies (GWAS) were performed as well as gene expression studies in order to discover genes and molecular pathways involved in COPD pathogenesis.

COPD is a heterogeneous disease with many comorbid and confounding conditions, and markers of disease may vary from one phenotype to another. The use of genomic data to direct or validate the subtyping of COPD is an area of interest.

The lecture will discuss the genetic studies to date and future directions of molecular diagnostics in COPD with integrative approach.

 

e-mail: lrumora [at] pharma [dot] hr