The molecular complexity of COL2A1 splicing variants and their significance in phenotype severity.

Pathogenic single nucleotide variants (SNVs) found in the COL2A1 gene are associated with a broad range of skeletal dysplasias due to their impact on the structure and function of the Col2a1 protein. However, the molecular mechanisms of some nucleotide variants detected during diagnostic testing remain unclear. The interpretation of missense and splicing variants caused by SNVs poses a significant challenge for clinicians. In this work, we analyzed 22 splicing variants in the COL2A1 gene which have been found in patients with COL2A1-associated skeletal dysplasias. Using a minigene system, we investigated the impact of these SNVs on splicing and gained insights into their molecular mechanisms and genotype-phenotype correlations for each patient. The results of our study are very useful for improving the accuracy of diagnosis and the management of patients with skeletal dysplasias caused by SNVs in the COL2A1 gene.

Antibiotic Activity of Probiotic Strain Bacillus subtilis 534 Against Clinical Isolates of Acinetobacter baumannii.

Probiotic strain Bacillus subtilis 534 is the base of sporobacterin, a pharmaceutical. In submerged culture it showed antibiotic activity against many of gram-positive and gram-negative bacteria and fungi. The spectrum of the antimicrobial activity of the culture fluid depended on the.cultivation time and aeration intensity. It was shown that component No. 1 of the antibiotic complex was effective against clinical isolates of Acinetobacter baumannii: 20 out of 24 isolates were susceptible to component No. 1, including 15 strains out of 16 panresistant isolates.