ProHealth health Vitamin and Natural Supplement Store and Health
Home  |  Log In  |  My Account  |  View Cart  View Your ProHealth Vitamin and Supplement Shopping Cart
800-366-6056  |  Contact Us  |  Help
Facebook Google Plus
Fibromyalgia  Chronic Fatigue Syndrome & M.E.  Lyme Disease  Natural Wellness  Supplement News  Forums  Our Story
Store     Brands   |   A-Z Index   |   Best Sellers   |   New Products   |   Deals & Specials   |   Under $10   |   SmartSavings Club

Trending News

Ultrasound Therapy for Fibromyalgia and Lyme Disease

Curcumin: The All In One Solution, Part 2

What Are the Benefits of Vitamin K2?

Vitamin D deficiency + high fat diet = metabolic syndrome

Why You Should Take Your Apple Cider Vinegar at Night

Use Burdock Oil to Promote Healthy Hair Growth

Meet Your Weight Loss Goals

AMA journal associates iron deficiency with hearing loss

People with forms of early-onset Parkinson's disease may benefit from boosting niacin in diet, resea...

Zinc eaten at levels found in biofortified crops reduces 'wear and tear' on DNA

 
Print Page
Email Article

Identification of Genes Causing Defects in Vitamin B12 Metabolism

  [ 34 votes ]   [ Discuss This Article ]
www.ProHealth.com • December 10, 2002


Montreal, December 10, 2002 – Investigators at the University of Calgary and McGill University have identified genes that underlie two severe diseases of vitamin B12 metabolism. The two diseases, known as the cblA and cblB forms of methylmalonic aciduria, may produce brain damage, mental retardation and even death if not detected in infancy or early childhood.

Melissa Dobson, a graduate student at the University of Calgary working with Roy Gravel PhD in the Department of Biochemistry and Molecular Biology, is lead author of two papers reporting the identification of the two genes. The genes were first identified in bacteria and then traced to their human counterparts. She credits the human genome project with her breakthrough. "We can now compare human and bacterial DNA sequences to find human genes," states Dobson. "This was made possible by the availability of the sequence of the complete human genome."

To prove whether she and colleague Daniel Leclerc, PhD, had identified the correct genes, she approached her McGill collaborators, Dr. David Rosenblatt and Dr. Thomas Hudson, for help in screening patients. The McGill University Health Centre (MUHC) has a world-renowned diagnostic facility and cell bank for patients with genetic diseases involving vitamin B12. Using Genome Quebec's MUHC -based sequencing centre, Dobson and her colleagues confirmed the presence of mutations in DNA from patients with the two diseases.

"We have identified two different genes that are critical to the processing of vitamin B12 by finding mutations in patients who have particular forms of methylmalonic aciduria," according to Dobson. Methylmalonic acid is a chemical intermediate in the breakdown of proteins and other substances. It accumulates in the body and is excreted in large amounts in the urine because the blocks in the processing of vitamin B12 prevent its metabolism.

Identifying the genes that cause cblA and cblB represents a landmark breakthrough for patients suffering from both forms of the disease. "The discovery will make possible DNA testing for carriers and early prenatal diagnosis. This is important because treatment can be started during pregnancy," says Rosenblatt. Fortunately, many patients can be treated with high dose vitamin B12 supplements and a diet that is low in protein.

"This research will lead to better understanding of the disorder and provides hope to those families living with this disease," adds Kathy Stagni, Executive Director of the Organic Acidemia Association, a nonprofit organization that supports families with inherited metabolic disorders.

This research is published in the November 26 issue of the Proceedings of the National Academy of Sciences (USA) and the December 15 issue of Human Molecular Genetics.

This study was supported by the Canadian Institutes of Health Research (CIHR), the National Institutes of Health (USA), and the March of Dimes Birth Defects Foundation.

The scientists are members of the Medical Genetics Group of the CIHR and the Canadian Genetic Diseases Network. Based at McGill, the Medical Genetics Group has existed since 1972, a record for sustained federal funding for such research.



Post a Comment

Featured Products From the ProHealth Store
Optimized Curcumin Longvida® Ultra ATP+, Double Strength FibroSleep™

Looking for Vitamins, Herbs and Supplements?
Search the ProHealth Store for Hundreds of Natural Health Products


Article Comments



Be the first to comment on this article!

Post a Comment


 
NAD+ Ignite with Niagen

Featured Products

Vitamin D3 Extreme™ Vitamin D3 Extreme™
50,000 IU Vitamin D3 - Prescription Strength
Ultra EPA  - Fish Oil Ultra EPA - Fish Oil
Ultra concentrated source of essential fish oils
Mitochondria Ignite™ with NT Factor® Mitochondria Ignite™ with NT Factor®
Reduce Fatigue up to 45%
FibroSleep™ FibroSleep™
The All-in-One Natural Sleep Aid
Optimized Curcumin Longvida® Optimized Curcumin Longvida®
Supports Cognition, Memory & Overall Health

Natural Remedies

Herbal Rescue for High Blood Sugar Herbal Rescue for High Blood Sugar
Relief for Dry, Itchy Skin Caused by Fibromyalgia Relief for Dry, Itchy Skin Caused by Fibromyalgia
Priming Your Immune System for Cold & Flu Season Priming Your Immune System for Cold & Flu Season
Repair Damaged Mitochondria and Reduce Fatigue Up to 45% Repair Damaged Mitochondria and Reduce Fatigue Up to 45%
Sleep Like a Baby in Nature's Cradle Sleep Like a Baby in Nature's Cradle

CONTACT US
ProHealth, Inc.
555 Maple Ave
Carpinteria, CA 93013
(800) 366-6056  |  Email

· Become a Wholesaler
· Vendor Inquiries
· Affiliate Program
SHOP WITH CONFIDENCE
Credit Card Processing
SUBSCRIBE TO OUR NEWSLETTERS
Get the latest news about Fibromyalgia, M.E/Chronic Fatigue Syndrome, Lyme Disease and Natural Wellness

CONNECT WITH US ProHealth on Facebook  ProHealth on Twitter  ProHealth on Pinterest  ProHealth on Google Plus

© 2017 ProHealth, Inc. All rights reserved. Pain Tracker App  |  Store  |  Customer Service  |  Guarantee  |  Privacy  |  Contact Us  |  Library  |  RSS  |  Site Map