Point mutation News and Research

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Salk researchers successfully edit diseased gene in patient-specific induced pluripotent stem cells

In principle, genetic engineering is simple, but in practice, replacing a faulty gene with a healthy copy is anything but. Using mutated versions of the lamin A gene as an example to demonstrate the versatility of their virus-based approach, researchers at the Salk Institute for Biological Studies successfully edited a diseased gene in patient-specific induced pluripotent stem cells as well as adult stem cells.

21 May 2011

Mitochondrial defect inherited from mother is linked to high blood pressure in one Chinese family

A specific genetic defect in one Chinese family shows that high blood pressure was inherited from the female parent, researchers report in Circulation Research: Journal of the American Heart Association.

1 Apr 2011

Scientists find reprogramming-associated mutations in hiPSCs

Ordinary human cells reprogrammed as induced pluripotent stem cells may ultimately revolutionize personalized medicine by creating new and diverse therapies unique to individual patients.

3 Mar 2011

Progeria-derived iPS cells may treat aging-related disease in children

The current pace of population aging is without parallel in human history but surprisingly little is known about the human aging process, because lifespans of eight decades or more make it difficult to study. Now, researchers at the Salk Institute for Biological Studies have replicated premature aging in the lab, allowing them to study aging-related disease in a dish.

24 Feb 2011

Scientists use full genome sequencing to identify precise steps in molecular evolution of S. pneumoniae

Despite penicillin and the dozens of antibiotics that followed it, streptococcus bacteria have remained a major threat to health throughout the world. The reason: the superb evolutionary skills of this pathogen to rapidly alter its genetic makeup.

29 Jan 2011

'Pacemaker' Hcn4 gene responsible for generation of repetitive activity in SAN tissue and heart rate regulation

The study of Dario DiFrancesco and his equipe identifies the "pacemaker" Hcn4 gene as the gene functionally responsible for the generation of repetitive activity in sinoatrial node tissue and for the regulation of heart rate. Hcn4 codes for HCN4 channels, the molecular components of "funny" ion channels of pacemaker cells of the sinoatrial node (SAN) tissue.

14 Jan 2011

Study reveals novel role of adenosine signaling in sickle cell disease

Metabolon, Inc., the leader in metabolomics, biomarker discovery and analysis, announces the publication of "Novel Role of Adenosine Signaling in Sickle Cell Disease", in Nature Medicine. Application of non-targeted biochemical profiling (metabolomics) to a mouse model of sickle cell disease (SCD) revealed a detrimental role of adenosine signaling in SCD and suggested novel therapeutic targets. The study was carried out in collaboration with The University of Texas Health Science Center at Houston.

21 Dec 2010

New OncoMap technique can detect point mutation in ovarian cancer

Researchers have shown that point mutations mis-spellings in a single letter of genetic code that drive the onset and growth of cancer cells can be detected successfully in advanced ovarian cancer using a technique called OncoMap. The finding opens the way for personalised medicine in which every patient could have their tumour screened, specific mutations identified, and the appropriate drug chosen to target the mutation and halt the growth of their cancer.

17 Nov 2010

New COLD-PCR technology to detect EGFR gene mutation

Transgenomic, Inc. today announced completion of a development study of several new assays to detect genetic mutations using the Company's proprietary Co-amplification at Lower Denaturing Temperature PCR (COLD-PCR) technology in the Epidermal Growth Factor Receptor (EGFR) gene.

8 Nov 2010

Transgenomic expands EU distribution of SURVEYOR Scan K-RAS CE IVD mutation detection kit

Transgenomic, Inc. today announced that it completed the requirements for CE IVD labeling and has significantly expanded distribution of its SURVEYOR® Scan K-RAS mutation detection kit throughout most of the European Union. The SURVEYOR Scan K-RAS CE IVD kit is a member of Transgenomic's family of mutation detection kits, which features proprietary SURVEYOR endonuclease technology.

14 Sep 2010

Recent business progress at Penwest Pharmaceuticals

Penwest Pharmaceuticals Co. today sent a letter to its shareholders to provide an update on the Company's recent progress and on corporate governance developments.

24 Apr 2010

Temperature-sensing ability in proteins remain a mystery

Scientists at The Scripps Research Institute and the Genomics Institute of the Novartis Research Foundation (GNF) have shed new light on the molecular mechanism that enables us to sense temperature, such as the heat from a sizzling stove. In addition to contributing to our knowledge of basic biology, the findings could one day lead to new therapies for conditions such as acute or chronic inflammatory pain.

24 Apr 2010

Findings shed light on pathogenesis behind human mitochondrial encephalomyopathies

A typical human cell contains hundreds of mitochondria-energy-producing organelles-that continually fuse and divide. Relatively little is known, however, about why mitochondria undergo this behavior.

16 Apr 2010

Researchers find some similarities between SPN and PET

Solid-pseudopapillary neoplasm (SPN) of the pancreas is relatively rare. There are some similarities between SPN and pancreatic endocrine tumor (PET), especially the non-functioning ones, in clinical and pathological manifestations.

18 Mar 2010

Most strains of pandemic H1N1 flu virus resist Tamiflu, say scientists

If the behavior of the seasonal form of the H1N1 influenza virus is any indication, scientists say that chances are good that most strains of the pandemic H1N1 flu virus will become resistant to Tamiflu, the main drug stockpiled for use against it.

2 Mar 2010

CNRS-Institut researchers identify 'virulence factor' that inhibits host immune response

Oncogenic retroviruses are a particular family of viruses that can cause some types of cancer. Thierry Heidmann and his colleagues in the CNRS-Institut Gustave Roussy-Université Paris Sud 11 "Rétrovirus endogènes et éléments rétroïdes des eucaryotes supérieurs" Laboratory have studied these viruses. They have identified a "virulence factor" that inhibits the host immune response and allows the virus to spread throughout the body.

16 Feb 2010

New functions in an enzyme can develop through point mutation

A new study by a research team at Uppsala University shows how new functions can develop in an enzyme. This can explain, for example, how resistance to toxins can occur so simply. The findings are now being published in the Journal of Biological Chemistry.

19 Jan 2010

MLL team finds 454 Sequencing technology promising for leukemia genetic characterization

This week at the 51st American Society for Hematology Annual Meeting, a team of researchers from the MLL Munich Leukemia Laboratory presented results from a series of groundbreaking studies which explore alternative, high-throughput 454 Sequencing methods for distinguishing and characterizing the many forms of leukemia and myeloproliferative disorders.

9 Dec 2009

Bird influenza viruses have a variety of strategies to cross the species barrier

The 2009 H1N1 influenza virus used a new strategy to cross from birds into humans, a warning that it has more than one trick up its sleeve to jump the species barrier and become virulent.