I171V germline mutation in the NBS1 gene significantly increases risk of breast cancer.

Nijmegen Breakage Syndrome (NBS) is a rare autosomal, recessive disease caused by homozygous mutations in the NBS1 gene. The most common deletion of 5 bp (657del5) in exon 6, which affects mostly the population of Central Europe is observed. Among the typical features of this disorder is that NBS patients experience a high incidence of lymphoid malignancies as well.

Presence of hepatitis C virus (HCV)-RNA in peripheral blood mononuclear cells in HCV serum negative patients during interferon and ribavirin therapy.

Identification of hepatitis C virus (HCV)-RNA in blood serum is crucial for hepatitis C diagnosis and for appropriate treatment. Detection of HCV-RNA in blood serum is used for therapy monitoring of patients with hepatitis C. Despite HCV-RNA elimination from blood serum during treatment in some patients, HCV viremia appears again after the completion of therapy.

Amplification of hTERT and hTERC genes in leukemic cells with high expression and activity of telomerase.

Reactivation of telomerase plays an important role in carcinogenesis. Malignant cells almost always possess high activity and expression of telomerase. The aim of this study was to see whether there is any relationship between telomerase activity and expression and hTERT and hTERC gene amplification in acute lymphoblastic leukemia (ALL) and non-lymphoblastic leukemia (ANLL) cells.

MSRV pol sequence copy number as a potential marker of multiple sclerosis.

Multiple sclerosis (MS) is a neurological disease in which demyelination in the brain and spinal cord is observed. The causal influence of bacterial/viral infections and genetic/immune factors in the etiology of multiple sclerosis is suggested. Multiple sclerosis-related retrovirus (MSRV) is one of the potential agents, which can lead to development of the disease.

Lack of correlation between telomere length and telomerase activity and expression in leukemic cells.

The expression of three components of telomerase complex (hTR, hTERT, TP1) along with telomerase activity and telomere length in leukemic cells was investigated. Cells were isolated from peripheral blood and/or bone marrow of children with acute lymphoblastic (ALL) and non-lymphoblastic (ANLL) leukemia. Expression of three components of telomerase as well as telomerase activity was found in all leukemic cells.

Multiple sclerosis-associated virus-related pol sequences found both in multiple sclerosis and healthy donors are more frequently expressed in multiple sclerosis patients.

In the etiopathogenesis of multiple sclerosis (MS), both genetic and environmental factors play an important role. Among environmental factors, viral infections are most likely connected with the etiology of MS. There are many evidence suggesting possible involvement of retroviruses in the development of autoimmune diseases including MS.

Activity and expression of human telomerase in normal and malignant cells in gastric and colon cancer patients.

Background: The reactivation of telomerase is believed to play an important role in immortalization and carcinogenesis.

Objective: To investigate the expression of three components of the telomerase complex (hTR, hTERT and TP1), along with telomerase activity in malignant and normal cells.

Methods: Cells were isolated from gastric and colon cancer, and from normal mucosa from the stomach and colon of participating patients.

[Prevalence of TT virus in patients with hepatitis B,C and hepatitis of unknown etiology].

Discovery of TT virus in 1997 gave raise to intensive subsequent studies to learn about its structure, features and, what is the most important, about its role in pathogenesis of liver disease. The aim of the work was to analyze prevalence of TTV DNA in patients with diagnosed hepatitis B, C, that of unknown etiology and in healthy blood donors as well. Additionally the divergence of TTV sequence was estimated in selected cases.