Breaking News
August 15, 2018 - New method provides a ‘big picture’ of genetic influences on traits and diseases
August 15, 2018 - Early Onset Type 1 Diabetes Linked to Heart Disease, Shorter Life
August 14, 2018 - SMURF1 provides targeted approach to preventing cocaine addiction relapse
August 14, 2018 - Genetic testing pushed for hereditary high cholesterol disease
August 14, 2018 - Researchers discover new genes involved in Alzheimer’s Disease
August 14, 2018 - Medicare to overhaul ACOs but critics fear fewer participants
August 14, 2018 - Adolescent health projects receive meager percentage of global funding, study finds
August 14, 2018 - University Hospitals Seidman Cancer Center launches new CAR-T therapy trial
August 14, 2018 - In the addiction battle, is forced rehab the solution?
August 14, 2018 - Busting myths about milk – Scope
August 14, 2018 - Platelet-rich plasma does not enhance cartilage formation capabilities of stem cells
August 14, 2018 - Wearable devices and ‘mhealth’ technology emerge as promising tools for better health
August 14, 2018 - Phase 2 Clinical Data Published Showing Summit’s Ridinilazole Preserved Gut Microbiome of Patients with CDI
August 14, 2018 - Cardiac progenitor cells undergo a cell fate switch to build coronary arteries
August 14, 2018 - Study identifies potential guidance to treat gastric cancer patients
August 14, 2018 - Revealed: The molecular mechanism underlying hypertrophic cardiomyopathy, or “workaholic heart”
August 14, 2018 - Diabetes epidemic in Guatemala driven by aging, not obesity
August 14, 2018 - New technology shows potential to streamline the analysis of proteins
August 14, 2018 - Rethinking the stroke rule ‘time is brain’
August 14, 2018 - Incidence of coronary artery compression in children may be more common than previously thought
August 14, 2018 - Study helps to better understand disease caused by Alpha-1 antitrypsin deficiency
August 14, 2018 - AI platform identifies acute neurological illnesses faster than human diagnosis
August 14, 2018 - American College of Rheumatology receives grants to support development of lupus clinical trials
August 14, 2018 - New study explains why women get more migraines than men
August 14, 2018 - American Heart Association Urges Screen Time Limits for Youth
August 14, 2018 - Brief interventions during routine care reduce alcohol use among men with HIV
August 14, 2018 - New genome analysis could identify people at higher risk of common deadly diseases
August 14, 2018 - NIH grant for Mount Sinai to study use of inhaled corticosteroids for treatment of sickle cell disease
August 14, 2018 - Daicel supplies free nanodiamond samples to international researchers
August 14, 2018 - Switching anti-psychotic drugs in first-episode schizophrenia patients does not improve clinical outcomes
August 14, 2018 - Study to examine whether modulating gut bacteria can improve cardiac function in heart failure patients
August 14, 2018 - AI technology could hold key to improving health services
August 14, 2018 - One out of two children not getting enough nutrients needed for their health
August 14, 2018 - Mono-antiplatelet therapy after aortic heart valve replacements may work as well as two drugs
August 14, 2018 - Aid-in-dying patient chooses his last day
August 14, 2018 - Exercise Really Can Chase Away the Blues, to a Point
August 14, 2018 - Surgical mesh implants may cause autoimmune disorders
August 14, 2018 - Researchers develop revolutionary zebrafish model to gain more insight into bone diseases
August 14, 2018 - Researchers discover secret communication hotline between breast cancers and normal cells
August 14, 2018 - Study examines how a person adapts to visual field loss after stroke
August 14, 2018 - Researchers show how specialized nucleic acid-based nanostructures could help target cancer cells
August 14, 2018 - Reducing opioid prescriptions for one operation can also spill over to other procedures
August 14, 2018 - E-cigarettes not so safe but still better than cigarettes
August 14, 2018 - Researchers find link between common ‘harmless’ virus and cardiovascular damage
August 14, 2018 - Initiation of PIMs associated with higher risk of fracture-specific hospitalizations and mortality
August 14, 2018 - Genetically modified mosquitoes and special bed nets help tackle deadly diseases
August 14, 2018 - Advances in treating hep C lead to new option for transplant patients
August 14, 2018 - Study finds quality of doctor-patient discussions about lung cancer screening to be ‘poor’
August 14, 2018 - MSU researchers uncover the effects of aging on regenerative ability of kidneys
August 14, 2018 - Better conditioning, throwing mechanics can help reduce elbow injuries in young baseball pitchers
August 14, 2018 - Brain game doesn’t offer brain gain
August 14, 2018 - Reproductive choices facing women with disabilities require careful consideration
August 14, 2018 - Scientists pinpoint the cause of a rare childhood seizure disorder
August 14, 2018 - Lumpectomy plus radiation associated with reduced risk of breast cancer death, study finds
August 14, 2018 - UAB study shows how ion channel differentiates newborn and mature neurons in the brain
August 14, 2018 - Experts highlight key knowledge gaps that need to be addressed in Ebola vaccine research
August 14, 2018 - Discovery could lead to new drugs against infection and inflammation
August 14, 2018 - Infection Prevention Differs Between Small, Large Hospitals
August 14, 2018 - Mom still matters—In study, young adults tended to prioritize parents over friends
August 14, 2018 - Deep brain stimulation might benefit those with severe alcoholism, preliminary studies show
August 14, 2018 - Study finds increased rate of repeat pregnancies in women with intellectual and developmental disabilities
August 14, 2018 - Lighter sedation fails to reduce risk of postoperative delirium in older patients
August 13, 2018 - Asking better questions about person’s memory could improve doctors’ understanding of patients
August 13, 2018 - U.S. Trauma Doctors Push for Stricter Gun Controls
August 13, 2018 - Asthma and flu: a double whammy
August 13, 2018 - 5 Questions: Donna Zulman on engaging high-need patients in intensive outpatient programs | News Center
August 13, 2018 - Behavioral Nudges Lead to Drop in Prescriptions of Potent Antipsychotic
August 13, 2018 - Potential New Class of Drugs May Reduce Cardiovascular Risk by Targeting Gut Microbes
August 13, 2018 - How to get your kids to eat better
August 13, 2018 - The importance of hearing your patients
August 13, 2018 - Transmission of F. tularensis unlikely to happen through the food chain
August 13, 2018 - Researchers discover epigenetic mechanism underlying ischemic cardiomyopathy
August 13, 2018 - Adolescent health programs receive only a tiny share of international aid, finds research
August 13, 2018 - Fracture risk increases by 30% after gastric bypass, study shows
August 13, 2018 - Quality-improvement project to standardize feeding practices helps micro preemies gain weight
August 13, 2018 - Long-term cannabinoid exposure impairs memory, study shows
August 13, 2018 - New intervention to reduce risk of HIV in young transgender women
August 13, 2018 - Japan human trial tests iPS cell treatment for Parkinson’s
August 13, 2018 - Altered nitrogen metabolism may contribute to emergence of new cancer mutations
August 13, 2018 - Cycling provides greatest health benefits, study finds
Researchers examine human mutations’ impact on therapeutic effect of medicine

Researchers examine human mutations’ impact on therapeutic effect of medicine

image_pdfDownload PDFimage_print

Every person has a unique DNA sequence in their genome. Now researchers from the University of Copenhagen and the MRC Laboratory of Molecular Biology in Cambridge have tried to quantify what these differences in the genome mean in the context of the genes targeted by drugs.

In a new study published in the scientific journal Cell they look at certain receptors (GPCRs) in the human cell. These protein receptors are the main targets of the biggest group of marketed modern medicine. By mining existing data sets they have mapped the extent to which mutations occur within GPCR drug targets in individuals and studied what impact these mutations could have on the therapeutic effect of medicine.

‘We estimate that an average of 3 percent of the population have receptors that contain mutations which can alter the effect of medicine’, says first author of the study, PhD Fellow Alexander Hauser from the Department of Drug Design and Pharmacology at the University of Copenhagen.

‘This might mean that the medicine simply works less efficiently. It can also mean that the medicine does not work at all or causes adverse effects on patients’, adds Madan Babu, last author of the study, from the MRC Lab of Molecular Biology in Cambridge, where Hauser conducted this research.

The researchers have analyzed the mutations in human GPCRs by using whole genome sequencing data from the 1,000 Genomes project with about 2,500 participants as well as exome data from the ExAC project with over 60,000 participants.

They then used structural data to infer critical sites in GPCRs to uncover which mutations are more likely to alter the outcome of medicine.

‘The 3 percent of the affected population is an average. For some important receptors, it is way more. For instance, the relevant mutations occur in 69 percent of people in the GLP1 receptor that is the target of diabetes medicine and in 86 percent of people in the CNR2 receptor that is used as a target for medicine to relieve nausea induced by chemotherapy. But of course, we cannot know every person’s genome and so these are estimates based on the data sets available’, says Alexander Hauser.

The researchers use their findings and sales data for the 279 GPCR-relevant drugs from the National Health Service in the UK to estimate how much money is spent on medicine with little or no effect.

As a conservative estimate, they find the economic burden on the UK National Health Service to be at least 14 million pounds annually, taking into account the number of people with mutations in both copies of the gene in important sites of the receptor target.

‘The prevalence and potential impact of variation in drug response between individuals is a strong argument for further researching this field. It also constitutes a fine example of why personalized medicine might be the way forward; even when we are talking about common drugs’, says Hauser.

Source:

http://healthsciences.ku.dk/news/2017/12/distinct-human-mutations-can-alter-the-effect-of-medicine/

Tagged with:

About author

Related Articles