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:12/25/2014)... Angeles, CA (PRWEB) December 25, 2014 The ... Dolcemaschio was created in honor of a true 9/11 ... at two film festivals including the 24 hours of Nuremberg ... Festival in Bangladesh. , Actress, screenwriter and director ... helped produce this film together with her husband, Gregory ...
(Date:12/25/2014)... When head lice hits a home or school, parents and ... of it while keeping it from taking over the house ... solution right in their neighborhood: Lice Troopers . Expanding ... spectrum head lice screening and treatment services to families and ... Brickell, Coconut Grove, Kendall, Pinecrest and South Miami. , The ...
(Date:12/25/2014)... -- Overeating is common during the holidays, but there are ... says. "Don,t arrive at a party hungry. It may ... be attending a party, but deprivation leads to hunger, and ... Westchester Hospital in Mount Kisco, N.Y., said in a hospital ... day and even to have a snack before attending a ...
(Date:12/25/2014)... December 25, 2014 Thousands of transvaginal ... forward in a number of multidistrict litigations currently underway ... Bernstein Liebhard LLP reports. According to an Order issued ... convene a Joint Status Conference in all of the ... have been directed to submit a proposed agenda to ...
(Date:12/25/2014)... Rosa, CA (PRWEB) December 25, 2014 ... department visits and 2 million hospital admissions across the ... and Prevention ). The CDC’s National Hospital Ambulatory ... departments through a survey conducted in 2010. They estimated ... department visits that resulted in a primary diagnosis of ...
Breaking Medicine News(10 mins):Health News:The True 9/11 Hero Story “Color of Honor” Premieres in Germany and Bangladesh: Luciana Lagana Plays the Mother of the Lead and Co-Produces with Blaise Dolcemaschio. 2Health News:The True 9/11 Hero Story “Color of Honor” Premieres in Germany and Bangladesh: Luciana Lagana Plays the Mother of the Lead and Co-Produces with Blaise Dolcemaschio. 3Health News:Coral Gables Florida Gets Ready to Be Lice-Free with Lice Troopers 2Health News:Federal Court Overseeing Thousands of Transvaginal Mesh Lawsuits Set to Convene Joint Status Conference for All Litigations, Bernstein Liebhard LLP Reports 2Health News:Federal Court Overseeing Thousands of Transvaginal Mesh Lawsuits Set to Convene Joint Status Conference for All Litigations, Bernstein Liebhard LLP Reports 3Health News:Federal Court Overseeing Thousands of Transvaginal Mesh Lawsuits Set to Convene Joint Status Conference for All Litigations, Bernstein Liebhard LLP Reports 4Health News:Every Year Four Million Emergency Department Visits Result from Accidents Involving Bone Trauma 2Health News:Every Year Four Million Emergency Department Visits Result from Accidents Involving Bone Trauma 3Health News:Every Year Four Million Emergency Department Visits Result from Accidents Involving Bone Trauma 4
... into lakes and rivers from municipal sewage treatment plants ... bacteria antibiotic-resistant. That,s the conclusion of a new study ... the Duluth, Minn., harbor that appears in ACS, journal ... LaPara and colleagues explain that antibiotic-resistant bacteria a ...
... WEDNESDAY, Dec. 7 (HealthDay News) -- Two U.S. Food and ... to recommend new warning labels about increased risk of blood ... Reproductive Health Drugs Advisory Committee and the Drug Safety and ... public, and then make a recommendation to the full FDA. ...
... a novel therapeutic approach to treating breast cancer, Loyola University ... trial of a drug that targets tumor stem cells., Existing ... a handful of cancer stem cells are resistant to such ... tumor cells., A pilot study at Loyola found that an ...
... A majority of Americans professing belief in God favor ... spread of nuclear weapons - branding it a moral ... jointly by the University of Maryland,s Center for International ... on International Policy Attitudes (PIPA). The nearly 1,500 ...
... Ill. -- Changing the order in which two drugs are ... cancer, a study has found., Women who took the drugs ... longer than women who took the drugs in sequence, researchers ... Cancer Symposium., "This most likely will change the standard of ...
... recognize the following scenario: Their favorite player scores a three-point ... ball. But does the fact that he scored the last ... it change the probability that he will score again? ... Neiman at the Hebrew University in Jerusalem shatters the myth ...
Cached Medicine News:Health News:FDA Panels to Weigh Safety of Newer Forms of the 'Pill' 2Health News:FDA Panels to Weigh Safety of Newer Forms of the 'Pill' 3Health News:Novel approach to treating breast cancer shows great promise 2Health News:US believers favor international action on climate change, nuclear risk: UMD poll 2Health News:US believers favor international action on climate change, nuclear risk: UMD poll 3Health News:Changing order drugs are taken boosts breast cancer survival 2Health News:Heads up Kobe Bryant! Research shows that trying for another 3-pointer is a mistake 2
(Date:12/22/2014)... Dec. 22, 2014   TRU-D SmartUVC LLC, ... disinfection robot, announced today that the General Services Administration ... November 2019.   This newly formed agreement ... levels of government purchasers, including Department of Veteran Affairs ... Homeland Security contacts purchasing solutions for the Ebola effort ...
(Date:12/22/2014)... Cyberonics, Inc. (NASDAQ: CYBX ), a global leader ... today announced it will participate in the 33 rd ... in San Francisco . ... speak at 11:00 AM Pacific Time.  A live audio webcast ... Investor Relations link on the Cyberonics home page at ...
(Date:12/22/2014)... Dec. 22, 2014  Mark Farrah Associates (MFA), ... a summary of the 2015 marketplace exchange projections ... According to a recent ASPE ... Evaluation, Department of Health and Human Services) report, ... individual medical plans through the Marketplace as of ...
Breaking Medicine Technology:TRU-D SmartUVC LLC Awarded General Services Administration Contract to Expand Government Customer Base 2Insights into the Marketplace and Individual Market Growth 2
... Inc. announced today that it has completed notifying customers ... ventilators in the United States and has confirmed that ... was initiated on October 11, 2011 to address a ... received no reports of ventilator malfunctions, failures or injuries ...
... 12, 2012 The Federal Trade Commission (FTC) announced ... to settle allegations that the company overcharged seniors and ... the FTC has concluded its investigation into charges alleging ... following the 2007 merger of mega-chain CVS with pharmacy ...
Cached Medicine Technology:Respironics, Inc. Completes Voluntary Recall Notification of a Limited Number of Trilogy 100 Ventilators 2NCPA Comments on FTC Action Against CVS Caremark, Vows to Continue PBM Transparency Efforts 2NCPA Comments on FTC Action Against CVS Caremark, Vows to Continue PBM Transparency Efforts 3
Protects skin from corrosive drainage with the standard wear, FlexWear skin barrier. Extra Security with porous tape....
Built-in convexity means added security and skin protection for recessed, retracted and flush stomas...pre-cut openings. Security and confidence achieved by the internal No-Flowback Valves and soft d...
Protects the skin over extended wearing time from irritating discharge. Flextend skin barrier is the barrier of choice for urostomies and ileostomies with the added benefit of it being discreet in bo...
Inquire...
Medicine Products: