Open Access Pub publishes peer-reviewed, free-to-read open-access articles. Showing
articles matching pathogenicity — open any to read the full text,
or download the PDF or XML.
The victims of the first wave of the pandemic caused by the coronavirus Covid-19 were tens of millions of people in the population inhabiting the Earth. A previously unknown strain of Covid 19, which has a specific affinity for lung tissue and high contagiousness, has demonstrated a global danger to the life of the population of the entire planet. The pathogenicity of the virus is due to a three-segment structure, in which the RNA-containing segment, which is a pathogenicity factor responsible for specific lesions, most likely has an enzymatic nature.
We report a case of a young woman with acquired immune deficiency syndrome admitted with fever and abdominal pain. Saccharomyces kluyveri was isolated in blood culture. She was successfully treated with fluconazole. This case demonstrates the pathogenicity of Saccharomyces Kluyveri in immunocompromised host.
Interpreting variants of uncertain significance (VUS) for their effect on protein function, and therefore for the risk of developing cancer, has become a challenge in clinical practice for genetic counselling services. The present work combines structural bioinformatics and systems biology based mathematical modelling approaches with the aim of determining the pathogenicity of the mutation c.5434C->G (p.Pro1812Ala) in the BRCA1 gene (detected in a patient from a high risk family) and also to mechanistically understand the effect of this mutation in DNA damage response, a key process in cancer development. The results obtained showed that this mutation prevents the interaction of BRCA1 with key proteins of the cell cycle, subsequently impairing BRCA1-dependent induction of cell cycle arrest. The comparison of the molecular mechanisms associated with the native BRCA1 protein and the mutated variant function in DNA damage response showed that the latter undergoes a reduction in its ability to modulate pathways that are critical for DNA repair and cell cycle control. Therefore, this variant will not be able to exert its tumor suppressive action. Interestingly, these conclusions can be extrapolated to all mutations that, like c.5434C>G (p.Pro1812Ala) BRCA1, cause loss of BRCT domain activity.