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Rare gene mutation gives rise to low sensitivity to pain

Researchers at University College London have identified a rare gene mutation in an Italian family who have little sensitivity to some forms of pain. Chronic pain caused by conditions such as lower back pain and osteoarthritis is one of the most prominent causes of disability worldwide, as assessed by the Global Burden of Disease reviews.

15 Dec 2017

Liver disease in children with Alagille Syndrome caused by malformations of bile ducts

Serious liver and heart problems can affect children with Alagille Syndrome early in life. While there is as yet no cure, researchers at Karolinska Institutet in Sweden have discovered that the liver disease part of the syndrome is caused by specific malformations of the bile ducts.

21 Nov 2017

Lab-grown miniature blood vessels mimic rare Hutchinson-Gilford Progeria Syndrome

Biomedical engineers have grown miniature human blood vessels that exhibit many of the symptoms and drug reactions associated with Hutchinson-Gilford Progeria Syndrome -- an extremely rare genetic disease that causes symptoms resembling accelerated aging in children.

16 Aug 2017

Researchers uncover mechanism that leads to disorders in pancreatic development, infant diabetes

Researchers at the University of Helsinki, Finland, have uncovered a mechanism through which a mutation in the STAT3 gene leads to a disorder in the development of the pancreas and to infant diabetes.

11 Apr 2017

Researchers develop novel in vivo model for studying pancreatic cancer

Researchers at Okayama University report in the December 2016 issue of the American Journal of Cancer Research a novel in vivo model for the study of pancreatic ductal adenocarcinoma (PDAC) tumors.

21 Feb 2017

Study shows structural impact of membrane lipids on medically relevant serotonin transporters

Neurotransmitter transporters are some of the most popular transport proteins in research as they play a major role in the processing of signals in the brain. A joint study by TU Wien and the Medical University of Vienna has now successfully demonstrated for the first time the structural impact of membrane lipids on medically relevant serotonin transporters.

19 Jan 2017

Persistent infection in infant reveals mutation that helps bacteria tolerate antibiotic therapy

The quest to understand a prolonged infection in an infant being treated for leukemia has led to the St. Jude Children's Research Hospital discovery of a mutation that allows bacteria to tolerate normally effective antibiotic therapy. The report appears today in the scientific journal mBio.

3 Jan 2017

Diamond publishes milestone paper that reveals discovery of genetic triggers behind birth defects

Researchers at the UK's national synchrotron facility, Diamond Light Source, have just published the 5000th scientific paper using data from the facility. This milestone marks a significant step for the synchrotron that is used by over 8,000 scientists each year.

7 Oct 2016

Kobe University researchers develop new technique for high-level genome editing operation

A team involving Kobe University researchers has succeeded in developing 'Target-AID', a genome editing technique that does not cleave the DNA.

26 Aug 2016

Gene mutation linked to impulsive drunken behaviour shields bearers from obesity, insulin resistance

University of Helsinki researchers have previously demonstrated that a point mutation in a gene of serotonin 2B receptor can render the carrier prone to impulsive behaviour, particularly when drunk.

10 Aug 2016

Researchers develop new detection systems for genotyping DNA and RNA with naked eye

DNA polymerases are the “Xerox machines” that replicate our DNA. They must work with great precision to keep errors from creeping into our genes.

14 Jul 2016

Researchers reveal molecular mechanism of autophagy initiation

Researchers revealed that Atg13 links autophagy initiation factors to each other using a string-like conformation, thereby promoting the association of diverse elements of the autophagy initiation machinery, initiating autophagosome formation through the recruitment of Atg9 vesicles and phosphorylation of various Atg factors.

12 Jul 2016

New technology can detect KRAS gene mutations, facilitate targeted therapies for lung and colorectal cancers

A new technology suitable for practical clinical testing can detect KRAS gene mutations in lung and colorectal cancers and could thereby facilitate targeted therapies, according to a new report in The Journal of Molecular Diagnostics.

8 Jun 2016

Immunotherapy with experimental monoclonal antibody could reduce neuroblastoma tumors

Neuroblastoma tumors shrank, some dramatically, in 80 percent of newly diagnosed, young, high-risk patients enrolled in a Phase II clinical trial that included an experimental monoclonal antibody. The immunotherapy agent was produced on the St. Jude Children's Research Hospital campus where the study is still underway.

3 Jun 2016

First small molecule targeted therapy holds promise for Usher syndrome

Usher syndrome (USH) is characterized by hearing loss or deafness at birth and progressive vision loss, and is the most common cause of inherited dual sensory deficit. No treatment is currently available to stop or slow the progression of vision or hearing loss in USH3, one of three clinical classifications for USH that are further divided into subtypes and all associated with different genes.

27 Apr 2016

Novel method could help analyze GWAS results for sporadic diseases

Using a novel method, Whitehead Institute researchers have determined how a non-coding mutation identified in genome-wide association studies can contribute to sporadic Parkinson's disease (PD). The approach could be used to analyze GWAS results for other sporadic diseases with genetic causes, such as multiple sclerosis, diabetes, and cancer.

21 Apr 2016

Researchers identify genetic mutations that lower complications associated with diabetes

The most significant complications of diabetes include diabetic retinal disease, or retinopathy, and diabetic kidney disease, or nephropathy. Both involve damaged capillaries.

11 Feb 2016

Epilepsy common but variable in mitochondrial disease patients

Around a quarter of patients with mitochondrial diseases have seizures, but these do not appear to increase their risk of dying, report researchers.

27 Nov 2015

Researchers identify genetic mutation associated with reckless drunken behavior

University of Helsinki researchers have identified a genetic mutation which renders carriers susceptible to particularly impulsive and reckless behaviour when drunk. More than one hundred thousand Finns carry this mutation.

17 Nov 2015

UCSF-led researchers map out melanoma's genetic trajectories

An international team of scientists led by UC San Francisco researchers has mapped out the genetic trajectories taken by melanoma as it evolves from early skin lesions, known as precursors, to malignant skin cancer, which can be lethal when it invades other tissues in the body.

12 Nov 2015