Posts Tagged: GENETICS

Highly safe biocontainment strategy hopes to encourage greater use of GMOs

Highly safe biocontainment strategy hopes to encourage greater use of GMOs

Hiroshima University researchers believe their simple phosphite-based control method will convince legislators to get with the times Use of genetically modified organisms (GMOs) – microorganisms not found in the natural world but developed in labs for their beneficial characteristics – is a contentious issue. For while GMOs could greatly improve society in numerous ways – e.g. attacking diseased cells, digesting pollution, or increasing food production – their use is heavily restricted by decades-old legislation, for fear of what might happen should they escape into the environment. For researchers, aware of their potential, it is important to develop safety strategies to convince legislators they are safe for release. For this reason… Read more

World first: Stem cell treatment for lethal STAT1 gene mutation — shows ‘disappointing’ but promising results

World first: Stem cell treatment for lethal STAT1 gene mutation — shows ‘disappointing’ but promising results

The first ever study assessing how patients with “gain of function” mutation of the STAT1 gene respond to stem cell transplantation has taken place. It involved 15 young patients, from nine different countries, each suffering a range of complications caused by the gene’s mutation. Of these, only six survived a regime of stem cell transplantation – with five completely cured and disease free by the study’s conclusion.   The study was carried out by Dr. Satoshi Okada (Hiroshima University), Professor Jennifer Leiding (University of Florida), Professor Tomohiro Morio (Tokyo Medical and Dental University), and Professor Troy Torgerson  (University of Washington). Dr. Okada, who first discovered the STAT1 gain of function… Read more

“Smart” genetic library – making disease diagnosis much easier

“Smart” genetic library – making disease diagnosis much easier

Hiroshima University finds way to determine disease-causing mutations Researchers at Hiroshima University have developed a smart genetic reference library for locating and weeding out disease-causing mutations in populations. The technique and database, developed by Dr. Satoshi Okada, of HU’s Graduate School of Biomedical & Health Sciences, has successfully estimated naturally occurring rare-variants in the STAT1 gene – and determined the diseases that would result. Using alanine scanning – a method for assessing the functional potential of genes, this study, the first of its kind, should assist doctors in diagnosing primary-immunodeficiency in patients.   STAT1 The STAT1 gene plays an important function in host immunity, through its role as a mediator… Read more

An alternative TALEN/CRISPR-mediated gene insertion technique described in detail

An alternative TALEN/CRISPR-mediated gene insertion technique described in detail

  A streamlined protocol for an alternative gene insertion method using genome editing technologies, the PITCh (Precise Integration into Target Chromosome) system, has been reported in Nature Protocols by Specially Appointed Lecturer Tetsushi Sakuma, Professor Takashi Yamamoto, Specially Appointed Associate Professor Ken-Ichi T Suzuki, and their colleagues at Hiroshima University, Japan. The PITCh system is more convenient and effective than existing methods for inserting foreign DNA into targeted genomic loci by using genome-editing tools. This new versatile technique can aid the rapid progression of research in fields such as screening of new drug candidates and creating cell or animal models of human diseases. Genome editing is an innovative technique used in genetic… Read more

Studying cancer DNA in blood may help personalize treatment in liver cancer

Studying cancer DNA in blood may help personalize treatment in liver cancer

  Fragments of cancer DNA circulating in a patient’s bloodstream could help doctors deliver more personalized treatment for liver cancer, Japanese researchers report. The new research may help address a particular challenge posed by liver cancers, which can be difficult to analyze safely. One serious risk of existing biopsy methods is that doctors who want to obtain a tumor sample for analysis might cause the cancer to spread into the space around organs. “Doctors need non-invasive methods that will allow them to safely study cancer progression and characterize the genomic features of a patient’s tumor,” said Professor Kazuaki Chayama, a principal investigator in this study. “Testing for these circulating DNA… Read more

New understanding of genetic susceptibility to infections by Candida and Mycobacterium

New understanding of genetic susceptibility to infections by Candida and Mycobacterium

  The discovery of bi-allelic mutations in RORC in patients with candidiasis and mycobacteriosis revealed the pivotal role of RORC in mucocutaneous immunity to Candida and in systemic immunity to Mycobacterium in humans. Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis (CMC), which is characterized by chronic or recurrent infections of the skin, nails, and oral and genital mucosae by Candida albicans, and inborn errors of human IFN-γ immunity underlie Mendelian susceptibility to mycobacterial disease (MSMD), a rare congenital disorder characterized by susceptibility to infections by poorly virulent intracellular pathogens such as non-tuberculosis Mycobacterium. Five genetic etiologies of CMC and eighteen genetic etiologies of MSMD have been reported so far. Only a few patients… Read more

Simultaneous live imaging of a specific gene’s transcription and dynamics

Simultaneous live imaging of a specific gene’s transcription and dynamics

The Real-time Observation of Localization and EXpression (ROLEX) system   Dr. Hiroshi Ochiai and his colleagues, Dr. Takeshi Sugawara (Research Center for the Mathematics on Chromatin Live Dynamics [RcMcD] at Hiroshima University) and Professor Takashi Yamamoto (Graduate School of Science at Hiroshima University), have established a novel live-imaging method termed the “Real-time Observation of Localization and EXpression (ROLEX)” system. This system enables simultaneous measurements of the transcriptional activity and nuclear position of endogenous genes using MS2 transcription imaging and clustered regularly interspaced short palindromic repeats (CRISPR) gene-imaging techniques.   Dr. Ochiai stated, “By using only existing techniques, such as the chromatin conformation capture (3C)-related method and fluorescence in situ hybridization… Read more

How is the membrane protein folded?

How is the membrane protein folded?

From molecular biology toward new medical care A key factor in the biosynthesis and stable expression of multi-pass transmembrane proteins was discovered, and its loss is thought to cause retinal degeneration. The factor works especially for multi-pass membrane proteins, in the integration of polypeptides into the membrane and/or protein folding. Understanding the mechanisms underlying protein folding and trafficking may contribute to the large-scale, therapy-based production of target proteins. In 2013, the Nobel Prize in Physiology or Medicine was awarded to Randy W. Schekman, James E. Rothman, and Thomas C. Südhof for their discovery of how cells deliver thousands of membrane proteins to the right place at the right time. It… Read more