http://medicalxpress.com/ en-us Medical Xpress internet news portal provides the latest news on Health and Medicine. Pharmaceuticals that inhibit a specific enzyme may be useful in treating progeria, or accelerated aging in children. A new study performed at the Sahlgrenska Academy indicates that the development of progeria in mice was inhibited upon reducing the production of this enzyme. http://medicalxpress.com/news/2013-05-treatment-progeria.html Diseases, Conditions, Syndromes Thu, 16 May 2013 14:00:12 EST news287931297 A common cancer pathway causing tumor growth is now being targeted by a number of new cancer drugs and shows promising results. A team of researchers at Case Western Reserve University School of Medicine have developed a novel method to disrupt this growth signaling pathway, with findings that suggest a new treatment for breast, colon, melanoma and other cancers. http://medicalxpress.com/news/2013-05-scientists-personalized-cancer-therapy.html Cancer Thu, 02 May 2013 17:16:42 EST news286733794 The initial clinical trial of a novel approach to treating amyotrophic lateral sclerosis (ALS) – blocking production of a mutant protein that causes an inherited form of the progressive neurodegererative disease – may be a first step towards a new era in the treatment of such disorders. Investigators from Massachusetts General Hospital (MGH) and Washington University School of Medicine report that infusion of an antisense oligonucleotide against SOD1, the first gene to be associated with familial ALS, had no serious adverse effects and the drug was successfully distributed thoughout the central nervous system. http://medicalxpress.com/news/2013-04-phase-als-trial-antisense-treatment.html Neuroscience Wed, 03 Apr 2013 14:44:58 EST news284219085 Scientists at the University of York have discovered the driving force behind the development of prostate cancer. http://medicalxpress.com/news/2013-03-york-scientists-prostate-cancer.html Cancer Wed, 27 Mar 2013 12:03:18 EST news283604588 New research, published in Neuron, gives insight into how single mutations in the VCP gene cause a range of neurological conditions including a form of dementia called Inclusion Body Myopathy, Paget's Disease of the Bone and Frontotemporal Dementia (IBMPFD), and the motor neuron disease Amyotrophic Lateral Sclerosis (ALS). http://medicalxpress.com/news/2013-03-mutations-vcp-gene-implicated-neurodegenerative.html Neuroscience Thu, 14 Mar 2013 09:37:06 EST news282472618 Loyola University Chicago Stritch School of Medicine researchers have developed a genetically modified protein that dramatically reverses the skin disorder vitiligo in mice, and has similar effects on immune responses in human skin tissue samples. http://medicalxpress.com/news/2013-02-protein-effective-treatment-vitiligo.html Medical research Wed, 27 Feb 2013 14:00:09 EST news281193217 (Medical Xpress)—As anyone familiar with the X-Men knows, mutants can be either very good or very bad—or somewhere in between. The same appears true within cancer cells, which may harbor hundreds of mutations that set them apart from other cells in the body; the scientific challenge has been to figure out which mutations are culprits and which are innocent bystanders. Now, researchers at Johns Hopkins Medicine have devised a novel approach to sorting them out: they generated random mutations in a gene associated with lymphoma, tested the proteins produced by the genes to see how they performed, and generated a catalog of mutants with cancer-causing potential. http://medicalxpress.com/news/2012-12-technique-lymphoma-linked-genetic-variations.html Cancer Thu, 27 Dec 2012 13:14:18 EST news275836453 A previously invincible mutation in chronic myeloid leukemia (CML) has been thwarted by an investigational drug in a phase I clinical trial reported in the current edition of The New England Journal of Medicine. http://medicalxpress.com/news/2012-11-ponatinib-resistant-chronic-myeloid-leukemia.html Cancer Wed, 28 Nov 2012 17:00:21 EST news273343855 By using a model, researchers at the University of Montreal have identified and "switched off" a chemical chain that causes neurodegenerative diseases such as Huntington's disease, amyotrophic lateral sclerosis and dementia. The findings could one day be of particular therapeutic benefit to Huntington's disease patients. http://medicalxpress.com/news/2012-11-chemical-neurodegenerative-diseases.html Neuroscience Tue, 27 Nov 2012 04:50:39 EST news273214228 A new light-based technique for measuring levels of the toxic protein that causes Huntington's disease (HD) has been used to demonstrate that the protein builds up gradually in blood cells. Published today in the Journal of Clinical Investigation, the findings shed light on how the protein causes damage in the brain, and could be useful for monitoring the progression of HD, or testing new drugs aimed at suppressing production of the harmful protein. http://medicalxpress.com/news/2012-09-toxic-protein-build-up-blood-huntington.html Neuroscience Mon, 17 Sep 2012 12:00:07 EST news267096211 Researchers at Mount Sinai School of Medicine have identified the genetic cause of a rare and fatal bone disease by studying frozen skin cells that were taken from a child with the condition almost fifty years ago. Their study, which details how the MT1-MMP gene leads to the disease known as Winchester syndrome, appears in the August 23, 2012 online edition of The American Journal of Human Genetics. http://medicalxpress.com/news/2012-08-mystery-death-sisters-years.html Genetics Wed, 29 Aug 2012 12:35:52 EST news265462546 (Medical Xpress)—Can HIV be transformed into a biotechnological tool for improving human health? According to a CNRS team at the Architecture et Réactivité de l'ARN (RNA Architecture and Reactivity) laboratory, the answer is yes. Taking advantage of the HIV replication machinery, the researchers have been able to select a specific mutant protein. Added to a culture of tumor cells in combination with an anticancer drug, this protein improves the effectiveness of the treatment at 1/300 the normal dosage levels. Published in PLoS Genetics on 23 August 2012, these findings could lead to long-term therapeutic applications in the treatment of cancer and other pathologies. http://medicalxpress.com/news/2012-08-aids-virus-cancer.html Genetics Wed, 29 Aug 2012 07:55:40 EST news265445555 Scientists now have clues to how a gene mutation discovered in families affected with congenital heart disease leads to underdevelopment of the walls that separate the heart into four chambers. A Nationwide Children's Hospital study appearing in PLoS Genetics suggests that abnormal development of heart cells during embryogenesis may be to blame. http://medicalxpress.com/news/2012-06-mouse-gene-discovery-congenital-heart.html Genetics Tue, 26 Jun 2012 17:40:26 EST news259951208 With a single drug treatment, researchers at the Ludwig Institute for Cancer Research at the University of California, San Diego School of Medicine can silence the mutated gene responsible for Huntington's disease, slowing and partially reversing progression of the fatal neurodegenerative disorder in animal models. http://medicalxpress.com/news/2012-06-drug-reverse-huntington-disease-symptoms.html Neuroscience Wed, 20 Jun 2012 12:00:01 EST news259411330 A substantial proportion of NK/T-cell lymphomas harbor Janus Kinase 3 gene mutations. Patients with these lymphomas might benefit from treatment with a Janus Kinase inhibitor according to a study published in Cancer Discovery, a journal of the American Association for Cancer Research. http://medicalxpress.com/news/2012-06-mutations-jak3-gene-subtype-lymphoma.html Cancer Fri, 15 Jun 2012 11:06:51 EST news258977203 Medical researchers at the University of Alberta have discovered a promising new therapy for Huntington disease that restores lost motor skills and may delay or stop the progression of the disease based on lab model tests, says the lead researcher. Because the new therapy uses a molecule already being used in clinical trials for other diseases, it could be used in a clinical trial for Huntington disease within the next one to two years. http://medicalxpress.com/news/2012-02-treatment-huntington-disease.html Diseases, Conditions, Syndromes Mon, 13 Feb 2012 15:00:07 EST news248366614 A mutant protein found in nearly all pancreatic cancers plays a role not only in the cancer's development but in its continued growth, according to a new study from University of Michigan Comprehensive Cancer Center researchers. The finding suggests a possible target for developing new ways to treat this deadly disease. http://medicalxpress.com/news/2012-01-gene-linked-pancreatic-cancer-growth.html Cancer Tue, 31 Jan 2012 11:08:43 EST news247230516 Amyotrophic lateral sclerosis (ALS; also known as Lou Gehrig's disease) is an incurable adult neurodegenerative disorder that progresses to paralysis and death. Genetic mutations are the cause of disease in 5% of patients with ALS. http://medicalxpress.com/news/2011-12-disease-halted-rat-lou-gehrig.html Medical research Mon, 12 Dec 2011 12:00:03 EST news242905844 Melatonin, best known for its role in sleep regulation, delayed the onset of symptoms and reduced mortality in a mouse model of Huntington's disease, say researchers at the University of Pittsburgh School of Medicine and Harvard Medical School. Their findings, published today in the Journal of Neuroscience, show for the first time that certain receptors for the hormone reside in the mitochondria, and that there are fewer of them both in affected mice and human brains. http://medicalxpress.com/news/2011-10-melatonin-onset-deaths-mouse-huntington.html Neuroscience Tue, 11 Oct 2011 17:34:40 EST news237573257 Huntington disease is a devastating neurogenerative disorder that causes a progressive loss of functional capacity and reduced life span. It is an inherited condition caused by a mutant HTT gene. Although this has been known for many years, the functions of the normal Htt protein and the mechanisms by which the mutant protein generated from the mutant HTT gene causes disease are not well understood. A team of researchers led by Frédéric Saudou, at the Institut Curie, France, has now uncovered a new function for normal Htt protein and determined that this function is disrupted in a mouse model of Huntington disease and in patients with the disorder. http://medicalxpress.com/news/2011-10-insight-cellular-defects-huntington-disease.html Medical research Mon, 10 Oct 2011 12:00:01 EST news237465719 Researchers have identified an unconventional path that may correct the defect underlying cystic fibrosis, according to a report in the September 2nd issue of the journal Cell. This new treatment dramatically extends the lives of mice carrying the disease-associated mutation. http://medicalxpress.com/news/2011-09-unconventional-path-cystic-fibrosis.html Medical research Thu, 01 Sep 2011 12:46:52 EST news234099944 In a kind of molecular gymnastics, scientists at the University of North Carolina at Chapel Hill School of Medicine have devised a gene therapy cocktail that has the potential to treat some inherited diseases associated with "misfolded" proteins. http://medicalxpress.com/news/2011-08-molecular-delivery-truck-gene-therapy.html Medical research Mon, 15 Aug 2011 15:00:06 EST news232637543