Health
Simple blood test diagnoses Parkinson's disease long before symptoms appear — A new research report appearing in the December issue of the FASEB Journal (http://www.fasebj.org) shows how scientists from the United Kingdom have developed a simple blood test to…
Early sign of Alzheimer's reversed in lab — One of the earliest known impairments caused by Alzheimer's disease - loss of sense of smell - can be restored by removing a plaque-forming protein in a mouse model of the disease,…
Parental controls on embryonic development? — When a sperm fertilises an egg, each contributes a set of chromosomes to the resulting embryo, which at these very early stages is called a zygote. Early on, zygotic genes are inert,…
Newly discovered heart stem cells make muscle and bone — Researchers have identified a new and relatively abundant pool of stem cells in the heart. The findings in the December issue of Cell Stem Cell, a Cell Press publication, show that…
BUSM researchers develop blood test to detect membranous nephropathy — Research conducted by a pair of physicians at Boston University School of Medicine (BUSM) and Boston Medical Centre (BMC) has led to the development of a test that can help diagnose…
New hip implants no better than traditional implants — New hip implants appear to have no advantage over traditional implants, suggests a review of the evidence published on bmj.com today…
Action needed to improve men's health in Europe — Policies aimed specifically at men are urgently needed to improve the health of Europe's men, say experts on bmj.com today…
Probiotics reduce infections for patients in intensive care — Traumatic brain injury is associated with a profound suppression of the patient's ability to fight infection. At the same time the patient also often suffers hyper-inflammation, due…
High blood sugar levels in older women linked to colorectal cancer — Elevated blood sugar levels are associated with an increased risk of colorectal cancer, according to a study led by researchers at Albert Einstein College of Medicine of Yeshiva University.…
Engineered botulism toxins could have broader role in medicine — The most poisonous substance on Earth - already used medically in small doses to treat certain nerve disorders and facial wrinkles - could be re-engineered for an expanded role in helping…
Where am I? > Home > News > Health

Researchers looking at a rare disease make breakthrough that could benefit everyone

Science Centric | 1 March 2011 17:51 GMT
Printable version A clip for your blog or website E-mail the story to a friend
Bookmark or share the story on your social network Vote for this article Decrease text size Increase text size
DON'T MISS —
Tuning into cell signals that tell where sensory organs will form inside the ear
Tuning into cell signals that tell where sensory organs will form inside the ear — Researchers have tracked a cell-to-cell signalling pathway that designates the future location of the ear's sensory organs…
Antibiotic may reduce stroke risk and injury in diabetics
Antibiotic may reduce stroke risk and injury in diabetics — A daily dose of an old antibiotic may help diabetics avoid a stroke or at least minimise its damage, Medical College of Georgia…
More Health

By working with Canadians of French ancestry who suffer a rare genetic disease, researchers have discovered how three genes contribute to abnormal growth, making a breakthrough that will improve our understanding of many disorders such as foetal and childhood growth retardation, abnormal development of body parts and cancer. 'As a result of the Human Genome Project, we know the basic identity of essentially all the genes in the human body, but we don't automatically know what they do in detail,' explained lead researcher Dr Mark Samuels of the University of Montreal's Department of Medicine and the Sainte-Justine University Hospital Research Centre. 'It's like opening your car and seeing the parts, but not knowing what each one does. When a part breaks however, you learn how it fits with the rest of the machine. Working with people who have specific health or development problems linked to specific genes enables us to see how those genes contribute to our bodies' development and functioning.'

In this case, the team of researchers characterised the molecular basis in patients who suffer from Meier-Gorlin Syndrome (MGS), a rare disorder that is characterised by short stature, small ears, and absent or underdeveloped knee-caps. The patients were mostly francophonic, coming from the Maritimes, Quebec, British Columbia as well as the Louisiana Cajun community. MGS is a classic 'single gene disorder,' meaning it is related to mutations in individual genes, although in the case of MGS different patients surprisingly seem to carry mutations in any of three different genes.

The genes are called ORC1L, ORC4L and CDT1, and are known to play a critical role in correct copying of DNA. Cells reproduce by dividing in two. All the chromosomes must also be duplicated. This process is tightly controlled to prevent having too many or two few copies of large segments of the genome. 'This seems to be the first example of any naturally occurring, inherited mutations identified in this set of important regulatory genes in any mammal. Finding the genes is a great example of the value of this type of research,' Samuels said. 'We learn the cause of the disease, and discover new things about our cellular function. However we still have a lot to learn about why mutations in these genes lead to the specific consequences in Meier-Gorlin patients.'

There are 20-25,000 genes in the human genetic sequence, and it's important to note that they don't necessarily each correspond to a specific function or group of functions, or indeed to a single disease. The same gene can have subtle effects on a number of bodily functions. Moreover, in complex genetic diseases - diabetes, for example - environment and lifestyle have as much or more of an impact on health than a person's genetic background.

'Understanding rare genetic conditions like MGS is important to the general public for two reasons,' Samuels stressed. 'Firstly, they provide insight into how our genes, and therefore our bodies, work. Secondly, although there are few people concerned for each particular disorder, in sum all patients with genetic conditions consume substantial amounts of health resources, and by diagnosing them more quickly, we can improve patient management and reduce the strain on the health care system.' Research suggests that up to 70% of admissions to paediatric hospitals may be related to some kind of genetic disorder. 'It's also important to note that behind the science and the statistics, there are real people suffering. It's an immense relief for patients and their families to finally have a clear diagnosis,' Samuels added.

In an unusual coincidence, a competing team of researchers obtained similar findings on Meier-Gorlin Syndrome in a different set of patients. These findings were published in the same issue of Nature Genetics. Samuels notes, 'Neither team can claim absolute priority in the discovery. However this is the way science works best: when important results are quickly verified by multiple teams independently.'

Source: University of Montreal


Leave a comment
The details you provide on this page [e-mail address] will not be used to send unsolicited e-mail, and will not be supplied to a third party! Please note that we can not promise to give everyone a response. Comments are fully moderated. Once approved they will be posted within 24 hours.
Expand the form to leave a comment

RSS FEEDS, NEWSLETTER
Find the topic you want. Science Centric offers several RSS feeds for the News section.

Or subscribe for our Newsletter, a free e-mail publication. It is published practically every day.

Cells changing track: Thymus cells transform into skin cells in Swiss laboratoryCells changing track: Thymus cells transform into skin cells in Swiss laboratory

— Taking one type of cell and transforming it into another type is now possible. Cells taken from the thymus have been transformed into skin cells - a discovery that…

Nearly 1 million children potentially misdiagnosed with ADHD, study findsNearly 1 million children potentially misdiagnosed with ADHD, study finds

— Nearly 1 million children in the United States are potentially misdiagnosed with attention deficit hyperactivity disorder simply because they are the youngest -…

Study suggests boys and girls not as different as previously thoughtStudy suggests boys and girls not as different as previously thought

— Although girls tend to hang out in smaller, more intimate groups than boys, this difference vanishes by the time children reach the eighth grade, according to a…

Mechanical regulation of cell substrates effects stem cell development, adhesionMechanical regulation of cell substrates effects stem cell development, adhesion

— Bioengineers at the University of Pennsylvania have created a system to control the flexibility of the substrate surfaces on which cells are grown without changing…

Popular tags in Health: cancer · diabetes · malaria · obesity