Therapy of Genetic Diseases in Man and the Possible Place of Genetic Engineering

The yeasts, includingSaccharomyces cerevisiaeandPichia pastoris, are single-cell eukaryotic organisms that can serve as models for human genetic diseases and hosts for large scale production of recombinant proteins in current biopharmaceutical industry. Thus, efficient genetic engineering tools for yeasts are of great research and economic values.Agrobacterium tumefaciens-mediated transformation (AMT) can transfer T-DNA into yeast cells as a method for genetic engineering. However, how the T-DNA is transferred into the yeast cells is not well established yet. Here our genetic screening of yeast knockout mutants identified a yeast actin-related proteinARP6as a negative regulator of AMT.ARP6is a critical member of the SWR1 chromatin remodeling complex (SWR-C); knocking out some other components of the complex also increased the transformation efficiency, suggesting thatARP6might regulate AMT via SWR-C. Moreover, knockout ofARP6led to disruption of microtubule integrity, higher uptake and degradation of virulence proteins, and increased DNA stability inside the cells, all of which resulted in enhanced transformation efficiency. Our findings have identified molecular and cellular mechanisms regulating AMT and a potential target for enhancing the transformation efficiency in yeast cells.

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Gene editing

Postępy Biochemii ◽

10.18388/pb.2018_99 ◽

2018 ◽

Vol 64 (1) ◽

pp. 9-12

Author(s):

Piotr Węgleński

Keyword(s):

Genetic Engineering ◽

Gene Editing ◽

Social Problems ◽

Metabolic Diseases ◽

Genetic Diseases ◽

Model Organisms ◽

Wild Type ◽

Gene Engineering ◽

Working Out ◽

Asilomar Conference

Development of the gene engineering techniques has raised worries that they will be used for construction of organism endangering humansand environment. In 1975 at the Asilomar conference, geneticists from many countries decided that genetic engineering brings more benefitsthan threats. In last years a new CRISPR-Cas technique emerged . It allows to make the precise changes in genomes, e.g. to inactivate particulargenes or to replace mutated genes by their wild-type alleles. Inactivation in mice of genes corresponding to those whose mutations causethe genetic diseases in man allows to get model organisms for studying the etiology of given disease and for working out the methods of itscuring. This technique can be applied for repairing genes whose mutations result in metabolic diseases and cancer. Some voices were raisedthat the technique can be potentially used for the “improvement” of man, what would create many ethical and social problems. Geneticists,ethicists and lawyers gathered in 2015 at the Washington conference, discussed these problems and proposed rules for their solving.

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Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR): A Novel Genomic Modifying Technique

International Journal of Science and Healthcare Research ◽

10.52403/ijshr.20210744 ◽

2021 ◽

Vol 6 (3) ◽

pp. 254-263

Author(s):

Ungkarit Wachapatthana ◽

Tanat Thanupran

Keyword(s):

Genetic Engineering ◽

Genetic Diseases ◽

Genetic Material ◽

Cost Effective ◽

General Information ◽

Modern World ◽

Award Winning ◽

Wide Range ◽

Significant Research ◽

Prize Award

In a way akin to how technological advancements involving molecular and biological science rapidly developed during the last decade, CRISPR, a newly found genomic modifying technique, quickly gained the attention of the scientific community. This paper aims to provide a fundamental understanding of CRISPR technology by reviewing articles from several journals, consisting of general information about CRISPR technology, process, advantages, limitations, and comparisons with other technologies. This recent technology drastically altered the boundaries of genetic engineering-most notably due to its outstanding flexibility of gRNA modification, as demonstrated by the work of the two Nobel Prize award-winning scientists Emmanuelle Charpentier and Jennifer A. Doudna. From the journals that had been reviewed, this paper presents that the CRISPR-Cas9 is one of the most efficient tools for genetic engineering in our modern world because of its incredible potential to perform genetic material modification in a wide range of patients with greater efficiency, versatility, and accuracy than before, all the while being more cost-effective. Additionally, since significant research and newfound knowledge related to genetic science was made possible from the discovery of this CRISPR technology, the possibility of CRISPR-Cas9 treatment in patients-particularly to combat congenital genetic diseases-would become a horizon that is within the reach of humanity’s hands. Keywords: genomic modifying technique, CRISPR technology, genetic engineering, congenital genetic disease, genetic material modification.

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Electron Microscopy of Fibroblasts from Myotonic Muscular Dystrophy Patients

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s0424820100098976 ◽

1981 ◽

Vol 39 ◽

pp. 498-499

Author(s):

S. E. Miller ◽

G. B. Hartwig ◽

R. A. Nielsen ◽

A. P. Frost ◽

A. D. Roses

Keyword(s):

Electron Microscopy ◽

Muscular Dystrophy ◽

Genetic Diseases ◽

Skin Fibroblasts ◽

Inborn Errors ◽

Cytoplasmic Inclusions ◽

Cultured Skin ◽

Myotonic Muscular Dystrophy ◽

Glycosaminoglycan Metabolism

Many genetic diseases can be demonstrated in skin cells cultured in vitro from patients with inborn errors of metabolism. Since myotonic muscular dystrophy (MMD) affects many organs other than muscle, it seems likely that this defect also might be expressed in fibroblasts. Detection of an alteration in cultured skin fibroblasts from patients would provide a valuable tool in the study of the disease as it would present a readily accessible and controllable system for examination. Furthermore, fibroblast expression would allow diagnosis of fetal and presumptomatic cases. An unusual staining pattern of MMD cultured skin fibroblasts as seen by light microscopy, namely, an increase in alcianophilia and metachromasia, has been reported; both these techniques suggest an altered glycosaminoglycan metabolism An altered growth pattern has also been described. One reference on cultured skin fibroblasts from a different dystrophy (Duchenne Muscular Dystrophy) reports increased cytoplasmic inclusions seen by electron microscopy. Also, ultrastructural alterations have been reported in muscle and thalamus biopsies from MMD patients, but no electron microscopical data is available on MMD cultured skin fibroblasts.

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