The first genomic characterization of a stable, hemin-dependent small colony variant strain of isolated from a prosthetic-joint infection.

Phenotype switching from a wild type (WT) to a slow-growing subpopulation, referred to as small colony variants (SCVs), supports an infectious lifestyle of , the leading cause of medical device-related infections. Specific mechanisms underlying formation of SCVs and involved in the shaping of their pathogenic potential are of particular interest for stable strains as they have been only rarely cultured from clinical specimens. As the SCV phenotype stability implies the existence of genetic changes, the whole genome sequence of a stable, hemin-dependent SCV strain (named 49SCV) involved in a late prosthetic joint infection was analyzed.

Identification of the RPGR Gene Pathogenic Variants in a Cohort of Polish Male Patients with Retinitis Pigmentosa Phenotype.

The goal of the study was to explore the spectrum of pathogenic variants in the RPGR gene in a group of male Polish patients with a retinitis pigmentosa (RP) phenotype. A total of 45 male index patients, including twins, being members of 44 families, were screened for pathogenic variants in the RPGR gene via the direct sequencing of PCR-amplified genomic DNA and underwent a comprehensive ophthalmological examination in one center located in Poland. A total of two pathogenic and five likely pathogenic variants in eight patients (18%) were detected in the studied cohort.

Mitochondrial DNA Changes in Respiratory Complex I Genes in Brain Gliomas.

Mitochondria are organelles necessary for oxidative phosphorylation. The interest in the role of mitochondria in the process of carcinogenesis results from the fact that a respiratory deficit is found in dividing cells, especially in cells with accelerated proliferation. The study included tumor and blood material from 30 patients diagnosed with glioma grade II, III and IV according to WHO (World Health Organization).

Mitochondrial DNA Changes in Genes of Respiratory Complexes III, IV and V Could Be Related to Brain Tumours in Humans.

Mitochondrial DNA changes can contribute to both an increased and decreased likelihood of cancer. This process is complex and not fully understood. Polymorphisms and mutations, especially those of the missense type, can affect mitochondrial functions, particularly if the conservative domain of the protein is concerned.

Analysis of polymorphic variants in the ADH7 gene in alcohol abusers and addicts.

Background: Environmental and genetic (in approximately 50%) factors are responsible for the development of alcohol abuse and dependence. The main genes responsible for the risk of harmful alcohol consumption are the genes encoding the enzymes of ethanol metabolism in the human body. Ethyl alcohol is oxidized to acetaldehyde by alcohol dehydrogenases found in the liver (ADH1B, ADH1C and ADH4) and stomach (ADH7).

Variation in gastric alcohol dehydrogenase and the risk of alcohol dependence.

Alcohol dependence is both a medical and socioeconomic problem. The disease is multifactorial, i.e.