From Medicineworld.org: gene for debilitating vitamin B12 disease identified
Cancer blog: I manage the cancer blog with lots of help and support form other bloggers. Through this cancer blog my friends and I try to bring stories of hope for patients with cancer. The cancer blog often republishes important blog posts from other cancer related blogs at Medicineworld.org. If you are searching for a blog that covers wide variety of cancer topics, this may be the one for you.
Breast cancer blog: Breast cancer blog is run by Emily and other bloggers and they bring you the latest stories, news and events that are related to breast cancer. Increasing awareness about breast cancer among women and in the general population is the main goal of this breast cancer blog.
Lung cancer blog: Lung cancer blog is managed by Scott with the help of other bloggers. Through this blog Scott and his friends constantly remind the readers about the dangers of smoking. It's a never-ending struggle against this miserable disease with which a social stigma of smoking is associated.
Colon cancer blog: Colon cancer blog is run by Sue and other bloggers. Sue brings a personal touch to the colon cancer blog since her mother died of colon cancer few years ago. She writes about stories, research news and advances in treatment related to colon cancer.
Prostate cancer blog: Prostate cancer is the most common cancer among American men. American Cancer Society estimates that over 230,000 new cases of prostate cancer occur in the United state every year. This important blog about prostate cancer is run by Mark and other bloggers. This blog brings news, stories, and other personal observations related to prostate cancer.
Medicineworld.org publishes a diabetes watch blog and this blog is run by JoAnn other bloggers. This diabetes watch blog brings you the latest in the field of diabetes. This includes personal stories, advances in diagnosis and treatment, and other observations about diabetes. Improving awareness about diabetes is an important mission of this group.
gene for debilitating vitamin B12 disease identified
"Eventhough this disease sometimes starts in adolescence or adulthood, we commonly diagnose this rare inability to process vitamin B12 in the first few months of life," says Dr. David Rosenblatt, Chairman of Human Genetics at McGill, Director of Medical Genetics in Medicine at the MUHC, Chief of Medical Genetics at the Jewish General Hospital and lead researcher of the new study. "Babies may have breathing, feeding, visual and developmental difficulties, older patients may develop sudden neurological disease."
Vitamin B12, which is found in all animal products-including dairy, eggs, meat, poultry, and fish-but not in plants, is vital for synthesis of red blood cells and maintenance of the nervous system. Vitamin B12 also helps control homocysteine levels in the human body. Homocysteine control is important because in excess this compound can increase the risk of heart disease, stroke, and dementia.
17 year-old Michael-a typical MMA and Homocystinuria patient-was diagnosed at 6-months of age, and has battled numerous medical challenges as a result of his condition. Michael is developmentally delayed, visually impaired and does not talk; he has suffered seizures since he was three years old, had a stroke by the age of seven and has since developed rheumatoid arthritis and scoliosis. Michael's diagnosis, which led the way to therapy involving injections of vitamin B12, was conducted at Dr. Rosenblatt's laboratory at the MUHC-one of only two centres in the world that perform these tests.
After more than 20-years of data collection, Dr. Rosenblatt, his student Jordan Lerner-Ellis and their team have now unlocked some of the secrets of this rare but debilitating condition. "Using over 200 patient samples, representing the majority of the world's 350 known cases, we have identified the responsible gene, called MMACHC," says Dr. Rosenblatt. "In collaboration with the laboratory of Dr. James Coulton, Department of Microbiology and Immunology at McGill, we used computer modelling to demonstrate the similarity between the protein encoded by the MMACHC gene and a protein involved in bacterial vitamin B12 metabolism." This new link between bacterial and mammalian species may help us better understand how humans use vitamin B12. Ultimately these discoveries have enabled us to develop early diagnosis and carrier assessment tests for the disease-something that was not previously possible.
"This discovery offers earlier diagnosis and therapy options for genetic diseases such as Methylmalonic aciduria and Homocystinuria. This represents a step toward improving the lives of those afflicted with such rare and devastating genetic diseases," says Dr. Roderick McInnes, Scientific Director of CIHR's Institute of Genetics. This breakthrough represents hope for Michael and his family, and a number of others that have been touched by this disease. "Michael is a very loving and caring child, who has had to overcome a number of challenges," says his mother Karen. "We are overjoyed that this research may one day give courageous children like Michael a fighting chance at a better quality of life".
Source: March of Dimes
Did you know?
Researchers at the MUHC and McGill University have identified a gene responsible for a disease that impairs the body's ability to handle vitamin B12 and that may contribute to heart disease, stroke and dementia. The details of the CIHR and March of Dimes funded research are published in this week's issue of Nature Genetics. The research, which began more than 20 years ago, will allow doctors to perform earlier diagnosis, assess 'carriers' of the disease-Combined Methylmalonic aciduria (MMA) and Homocystinuria-and open the door to new and improved therapys for this debilitating disease.
Medicineworld.org: gene for debilitating vitamin B12 disease identified
The contents of this web page are protected. Legal action may follow for reproduction of materials without permission.