XHerpes.Com - Generic herpes treatment at great prices, herpes advice, herpes pictures, herpes dating and herpes help.
Wednesday, November 30, 2005
New Gene Identified
MONTREAL, Nov. 30 /PRNewswire/ -- Scientists 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 treatments for
this debilitating disease.
"Although this disease sometimes starts in adolescence or adulthood, we
usually 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 treatment 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 treatment 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 many others that have been touched by this disease.
"Michael is a very loving and caring child, who has had to overcome many
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."
About medical genetics:
Alterations in our genes are responsible for thousands of hereditary
diseases and influence the development of thousands more. Once the genes
involved in a particular disease are discovered, scientists become better able
to precisely diagnose disease, predict its course, and create more effective
treatments with fewer side effects.
Medical genetics can even be used to
assess patients' risk of developing certain diseases, allowing them to take
preventive medicines and make lifestyle changes, like diet and environment,
which may help prevent or delay their development.
Medical genetics research is advancing at an incredible rate. This year
alone, MUHC scientists have identified genes contributing to breast cancer,
colon cancer, lung cancer, tuberculosis, migraines, cytomegalovirus
(associated with herpes, chicken pox and mononucleosis) and rare but
devastating diseases such as retinitis pigmentosa.
The current work on
Methylmalonic aciduria and Homocystinuria was a product of the CIHR group in
Medical Genetics, comprised of scientists at the MUHC, McGill University, the
University of Calgary and collaborators at the Hospital for Sick Children in
Toronto.
The McGill University Health Centre (MUHC) is a comprehensive academic
health institution with an international reputation for excellence in clinical
programs, research and teaching.
The MUHC is a merger of five teaching
hospitals affiliated with the Faculty of Medicine at McGill University -- the
Montreal Children's, Montreal General, Royal Victoria, and Montreal
Neurological Hospitals, as well as the Montreal Chest Institute.
Building on
the tradition of medical leadership of the founding hospitals, the goal of the
MUHC is to provide patient care based on the most advanced knowledge in the
health care field, and to contribute to the development of new knowledge.
http://www.muhc.ca
McGill University is Canada's leading research-intensive university and
has earned an international reputation for scholarly achievement and
scientific discovery.
Founded in 1821, McGill has 21 faculties and
professional schools, which offer more than 300 programs from the
undergraduate to the doctoral level.
McGill attracts renowned professors and
researchers from around the world and top students from more than 150
countries, creating one of the most dynamic and diverse education environments
in North America.
There are approximately 23,000 undergraduate students and
7,000 graduate students. It is one of two Canadian members of the American
Association of Universities. McGill's two campuses are located in Montreal,
Canada. http://www.mcgill.ca
The March of Dimes is a national voluntary health agency whose mission is
to improve the health of babies by preventing birth defects, premature birth
and infant mortality.
Founded in 1938, the March of Dimes funds programs of
research, community services, education, and advocacy to save babies and in
2003 launched a campaign to reduce the rate of premature birth. For more
information, visit the March of Dimes Web site at http://www.marchofdimes.com.
The Canadian Institutes of Health Research (CIHR) is the Government of
Canada's agency for health research. CIHR's mission is to create new
scientific knowledge and to catalyze its translation into improved health,
more effective health services and products, and a strengthened Canadian
health care system. Composed of 13 Institutes, CIHR provides leadership and
support to close to 10,000 health researchers and trainees across Canada.
http://www.cihr-irsc.gc.ca