Application of Extremophiles in Medicine and Pharmaceutical Industries

Extremophiles are at center stage of scientific interest owing to their peculiar properties in terms of physiology, ecology, biochemistry, and molecular genetics. The bio-active compounds from extremophiles involve various types of extremolytes. The functional applicability of extremophiles has been far-reaching. Looking to the global scenario medical, pharmaceutical and allied healthcare sectors have a persistent surge for a novel anticancer, antimicrobial, stable drug deliverables, nutraceuticals, fine chemicals, natural antioxidants, and bio-polymers compounds. Genetic engineering tools clubbed with -omics approach enhance and better the chances for applicability of the extremophilic metabolites in varied sectors of red and yellow biotechnology. The chapter provides an insight into the various types of bio-active molecules from extremophiles and their wide biotechnological applicability in the medical and pharmaceutical industry.

Clinical and Genetic Correlations of Inherital Retinal Disease with Mutations in the ABCA4 Gene by Patients of the Russian Population

Aim: to study genotype-phenotype correlations in patients with inherited retinal diseases with mutations in ABCA4 gene in Russian Federation.Patients and methods. 21 patients from Russian population aged from 7 to 51 years old (mean age 20 ± 11 years with best-corrected visual acuity from 0,02 to 0,6 (0,14 ± 0,11) with ABCA4-associated retinopathy, verified by molecular genetics methods. All patients besides standard ophthalmic examination and photodocumentation were performed Spectral-Domain OCT and fundus autofluorescence on Spectralis ®HRA+OCT (Heidelberg Engineering, Germany). Full-field electroretinogram (ERG), 30-Hz flicker ERG and macular chromatic ERG (MERG) to red stimulus were recorded on electroretinographic system MBN (MBN, Russia). (Russia) Molecular genetic studies were performed using Next Generation Sequencing (NGS) and Sandger direct sequencing. Results: In ABCA4-associated Stargardt disease 1 type (STGD1) genotype [p.L541P, p.A1038V] of «frequent» mutations was revealed in 9 patients, in 2 cases in was associated another “frequent” mutation p.G1961E. In 4 patients with genotype [p.L541P, p.A1038V] “severe” phenotype of Stargardt disease was found: with large defect of the ellipsoid zone and large zone of central reduced autofluorescence, severely subnormal macular ERG (MERG) to red stimulus and subnormal 30 Hz flicker and full-field maximal ERG. In one patient with these mutations in homozygous state ABCA4-associated cone-rod dystrophy (CORD3, clinically looking alike secondary retinal dystrophy is diagnosed. In 2 patients with genotype [p.L541P, p.A1038V] and mutation p.G1961E was found mild phenotype. One patient with homozygous mutation p.R653C autosomal recessive ABCA4-associated retinitis pigmentosa (RP19) was diagnosed. Clinical picture and autofluorescence were polymorphic in all patients.Conclusions. Our study with ophthalmological, molecular genetics and instrumental methods widens the spectrum of clinical signs of inherited eye diseases associated with mutations in АВСА4 gene, widens the spectrum mutations in Russian Federation and reveals clinicо-genetic genotype-phenotype correlations.

Introduction to Genetics

The textbook outlines the cytological foundations of heredity, the regularities of Mendelian genetics, the chromosomal theory of heredity, the basics of molecular genetics and genetic engineering, the patterns of inheritance during distant hybridization, polyplodia and mutagenesis. Special attention is paid to the heterosis and genetics of populations. A significant part of the data is presented in the form of figures, diagrams, graphs and tables that facilitate the understanding of the material presented. Meets the requirements of the federal state educational standards of higher education of the latest generation. For students of higher educational institutions studying in agronomic specialties.