Navigation Links
Peering into Genetic Defects, CU Scientists Discover a New Metabolic Disease
Date:9/5/2013

n with symptoms that looked like he had a B 12 problem called cobalamin C deficiency or cblC for short, which, like its newly discovered counterpart, can show up in utero.

The gene for cblC had been discovered by researchers who studied several hundred patients with similar symptoms. A few of those patients, however, did not have the genetic mutation that that was common to the cblC patients. And some, like Max, had symptoms that didn’t quite match up.

“We knew from early on that something was unusual about this patient,” says Johan Van Hove, MD, a CU professor in the Department of Pediatrics, who saw Max when the boy was just a few months old.

Max was labeled as having cblC – but Van Hove and others on a team of metabolism experts at Children’s Hospital Colorado had their doubts. Some of Max’s symptoms seemed too severe for that diagnosis.

So Shaikh, an associate professor in the medical school’s pediatrics department, and CU colleagues, used what is called next generation genetic sequencing to delve into Max’s DNA. They also looked at genes of patients who didn’t fit the cobalamin C model, obtained from partners at the National Institutes of Health, and in Canada and Switzerland.

All of those patients carried mutations that hadn’t been identified before. The problem was due to flaws in a gene designed to control the workings of an enzyme that, in turn, helps the body metabolize B 12. The article gives a name to Max’s disease – cblX -- because the gene is on the X chromosome.

“This discovery will lead to the correct diagnosis of this serious genetic disorder and will change the way that genetic counseling is given in these families,” says study co-author David Rosenblatt, MD, with the Research Institute of the McGill University Health Centre. “It also helps explain how vitamin B 12 functions in the body, even for those without the disorder.”

The research moves matters to a new phase, Van Hove says, because
'/>"/>

Source: PRWeb
Copyright©2012 Vocus, Inc.
All rights reserved

Page: 1 2 3

Related medicine news :

1. Cleveland Clinic researcher finds genetic mutation in castration-resistant prostate cancer
2. New, robust treatment for stroke uses genetic material from bone marrow
3. American Scientists Attempt to Sequence John Lennon's Genetic Code from the Beatle's Tooth
4. A genetic answer to the Alzheimers riddle?
5. Genetic Testing for Kidney Disease Among African-Americans with Hypertension to Become Part of Primary Care Offerings Through Mount Sinai and Partners
6. NPC and Beyond Genetics Supplements Announce Hosts for SHREDZ 2013 Tri-State Bodybuilding and Physique Championships
7. Genetic link to gestational diabetes
8. Mount Sinai launches first-ever genetic testing program in the primary care setting
9. UCLA and Chinese scientists analyze genetic makeup of human and mouse embryos in amazing detail
10. Researchers identify genetic mutation linked to congenital heart disease
11. EpicGenetics, Inc., Developer of the First Blood Test for Fibromyalgia, Releases Fibromyalgia App
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:7/28/2014)... July 28, 2014 Mitul R. Patel, ... gathered at the MGE Management Experts Benefit Dinner May ... leaders joined the Dentists to raise funds for the ... and Girls Clubs and Youth Programs across America. The ... people with books and audio books to directly tackle ...
(Date:7/28/2014)... 2014 Dr. Alan Xenakis, MD announced today ... Funny Feelings.” The new book, DOC X MD Funny ... unique story telling style with humor and medical accuracy. The ... reader will find answers to those age-old questions that most ... people pee? Why do mosquitoes bite some and not others? ...
(Date:7/27/2014)... Zensah®, the leader in compression technology and sports medicine, has ... . The wrist support features an adjustable velcro strap and ... Epicondylitis, more commonly referred to as tennis elbow and golfers ... the tendons attached to the outside of the elbow. Although ... work the wrist and fingers turn into a tendon that ...
(Date:7/27/2014)... Manufacturers of natural ingredient beauty creams are now ... younger appearance. The Cherry News company has published its ... women explore the availabilities from U.S. retailers at ... the posted guide on the Cherry News website provide ... to some natural ingredient formulas is the high sticker ...
(Date:7/27/2014)... (HEV) transmission by blood components indicates that about 1 ... plasma. The findings, published in The Lancet , ... cells, platelets, and fresh frozen plasma) are likely to ... study retrospectively screened 225 000 individual blood donations collected ... 2013 for HEV RNA. 79 donors were found to ...
Breaking Medicine News(10 mins):Health News:Mitul R. Patel, DDS Successfully Attacks a Major Source of Economic Destruction in the Battle Against Illiteracy and Poverty 2Health News:Mitul R. Patel, DDS Successfully Attacks a Major Source of Economic Destruction in the Battle Against Illiteracy and Poverty 3Health News:New Book by Alan P. Xenakis, MD Reveals Mind and Body Mysteries 2Health News:Zensah® Releases New Wrist Support 2Health News:Natural Eye Cream Buyer's Guide Published Online at Consumer News Website 2Health News:The Lancet: 1 in 3000 blood donors in England infected with hepatitis E 2
... play a role in screening for colorectal cancer (CRC), ... rates, the American Gastroenterological Association (AGA) Institute issued minimum ... competence, a minimum of 75 endoscopically confirmed cases should ... fact that CT colonography has not yet been endorsed ...
... than other chronic conditions , , FRIDAY, Sept. 7 (HealthDay ... may well be the most disabling disease in the ... chronic physical diseases such as angina, arthritis, asthma and ... from depression, the team of international researchers found. , ...
... Home and the ... Workplace-- ... Sept. 7 Quick, convenient, quality,health care has come to the Oklahoma ... the CVS/pharmacy store in Moore at 1040,SW 19th Street. MinuteClinic ( http://www.minuteclinic.com ...
... Group, the,international generic pharmaceuticals company, today announced that ... from the U.S. Food &,Drug Administration. Distribution of ... tablets, the generic equivalent of Pfizer,s,Norvasc(R) tablets, will ... 10 mg strengths,and are indicated for the treatment ...
... BELLEVILLE, ON, Sept. 7 /PRNewswire-FirstCall/ - Bioniche ... Canadian,biopharmaceutical company, today announced that it has ... Economic Development (RED) Program of the,Ontario Ministry ... grant,announced by the Honourable Leona Dombrowsky, Minister ...
... Medicine at The University of Nottingham, has been recognised ... of newborn babies, particularly those born prematurely, with an ... award, by the Good Clinical Practice Journal (GCPj), acknowledges ... in drug development and clinical trials. It is given ...
Cached Medicine News:Health News:Gastroenterology sets standards for CT colonography 2Health News:Gastroenterology sets standards for CT colonography 3Health News:Depression May Be World's Most Disabling Disease 2Health News:Depression May Be World's Most Disabling Disease 3Health News:An Innovation in Health Care Opens at a CVS/pharmacy Store in the Oklahoma City Region 2Health News:An Innovation in Health Care Opens at a CVS/pharmacy Store in the Oklahoma City Region 3Health News:An Innovation in Health Care Opens at a CVS/pharmacy Store in the Oklahoma City Region 4Health News:An Innovation in Health Care Opens at a CVS/pharmacy Store in the Oklahoma City Region 5Health News:Actavis Launches Amlodipine Tablets in the U.S. 2Health News:Bioniche Receives $2 Million Government Grant For Market Development Related to its E. coli O157:H7 Cattle Vaccine 2Health News:Academic Researcher of the Year 2007 2
(Date:7/25/2014)... YORK , July 25, 2014  Smile Train ... to showcase their Virtual Surgery Simulator among leading ... which will take place in Washington, D.C. ... the Performing Arts. "Smile Train is ... alongside the talented community of innovators in health and ...
(Date:7/25/2014)... -- GrowBLOX Sciences, Inc. (OTCQB: GBLX) is pleased to announce ... LaurelCo, LLC, an Illinois limited liability ... dispensary medical marijuana licenses in the state of ... a 20% equity interest in LaurelCo, LLC in exchange for ... as well as all technology related to the machines and ...
(Date:7/25/2014)... -- Solanbridge Group Inc (OTC: SLNX) is pleased to announce ... and the Letter of Intent issued on July 11, ... Agreement. Charles R. Shirley , Managing ... Mr. David Pecoraro and Buzznbrewz.com join SLNX,s ... sector and developed a tremendous network of contacts who ...
Breaking Medicine Technology:Smile Train and BioDigital Selected to Showcase Virtual Surgery Simulator in The Hive at TEDMED 2014 2Smile Train and BioDigital Selected to Showcase Virtual Surgery Simulator in The Hive at TEDMED 2014 3GrowBLOX Sciences, Inc. Partners with LaurelCo, LLC to Obtain Licenses to Cultivate and Dispense Medical Marijuana in Illinois 2GrowBLOX Sciences, Inc. Partners with LaurelCo, LLC to Obtain Licenses to Cultivate and Dispense Medical Marijuana in Illinois 3Solanbridge Group Inc Announces Acquisition of Buzznbrewz.com 2
... LOUIS, Aug. 30, 2011 The Board of Directors of ... its regularly scheduled board meeting that it reaffirmed the Company,s ... platform and expansion of the Odyssey ™  platform into ... Board reviewed and endorsed the commercial strategies put forth for ...
... Lexicon Pharmaceuticals, Inc. (Nasdaq: LXRX ... for human disease, announced today that Arthur T. ... officer, will present at the Stifel Nicolaus Healthcare Conference ... p.m. Eastern Time.  Dr. Sands will provide an overview ...
Cached Medicine Technology:Stereotaxis' Board of Directors Reaffirms Commercialization Plans for Epoch™ and Odyssey™ Product Platforms 2Stereotaxis' Board of Directors Reaffirms Commercialization Plans for Epoch™ and Odyssey™ Product Platforms 3Lexicon Pharmaceuticals to Present at Stifel Nicolaus Healthcare Conference 2
... Alsius heat exchange catheters connect to the ... and maintains a target temperature input by ... patient core temperature and automatically adjusts the ... catheter (0-42C), providing consistent maintenance of temperature. ...
... vascular access. Hollow stylet design ... puncture with two-part needle. Initial ... while maintaining thumb position on ... hub of the stylet. Supplied ...
Used to introduce balloon, diagnostic and guiding catheters, or other devices for intervention....
Used for percutaneous introduction of balloon, electrode and closed or non-tapered end catheters for vascular and non-vascular use....
Medicine Products: