PRESS-NEWS.org - Press Release Distribution
PRESS RELEASES DISTRIBUTION

Whole exome sequencing identifies cause of metabolic disease

2012-02-06
(Press-News.org) Sequencing a patient's entire genome to discover the source of his or her disease is not routine – yet. But geneticists are getting close.

A case report, published this week in the American Journal of Human Genetics, shows how researchers can combine a simple blood test with an "executive summary" scan of the genome to diagnose a type of severe metabolic disease.

Researchers at Emory University School of Medicine and Sanford-Burnham Medical Research Institute used "whole-exome sequencing" to find the mutations causing a glycosylation disorder in a boy born in 2004. Mutations in the gene (called DDOST) that is responsible for the boy's disease had not been previously seen in other cases of glycosylation disorders.

Whole-exome sequencing is a cheaper, faster, but still efficient strategy for reading the parts of the genome scientists believe are the most important for diagnosing disease. The report illustrates how whole-exome sequencing, which was first offered commercially for clinical diagnosis in 2011, is entering medical practice. Emory Genetics Laboratory is now gearing up to start offering whole exome sequencing as a clinical diagnostic service.

It is estimated that most disease-causing mutations (around 85 percent) are found within the regions of the genome that encode proteins, the workhorse machinery of the cell. Whole-exome sequencing reads only the parts of the human genome that encode proteins, leaving the other 99 percent of the genome unread.

The boy in the case report was identified by Hudson Freeze, PhD and his colleagues. Freeze is director of the Genetic Disease Program at Sanford-Burnham Medical Research Institute. A team led by Madhuri Hegde, PhD, associate professor of human genetics at Emory University School of Medicine and director of the Emory Genetics Laboratory, identified the gene responsible. Postdoctoral fellow Melanie Jones is the first author of the paper.

"This is part of an ongoing effort to develop diagnostic strategies for congenital disorders of glycosylation," Hegde says. "We have a collaboration with Dr. Freeze to identify new mutations."

Glycosylation is the process of attaching sugar molecules to proteins that appear on the outside of the cell. Defects in glycosylation can be identified through a relatively simple blood test that detects abnormalities in blood proteins. The sugars are important for cells to send signals and stick to each other properly. Patients with inherited defects in glycosylation have a broad spectrum of medical issues, such as developmental delay, digestive and liver problems and blood clotting defects.

The boy in this case report was developmentally delayed and had digestive problems, vision problems, tremors and blood clotting deficiencies. He did not walk until age 3 and cannot use language. The researchers showed that he had inherited a gene deletion from the father and a genetic misspelling from the mother.

"Over the years, we've come to know many families and their kids with glycosylation disorders. Here we can tell them their boy is a true 'trail-blazer' for this new disease," Freeze said. "Their smiles—that's our bonus checks."

The researchers went on to show that introducing the healthy version of the DDOST gene into the patient's cells in the laboratory could restore normal protein glycosylation. Thus, restoring normal function by gene therapy is conceivable, if still experimental. However, restoration of normal glycosylation would be extremely difficult to achieve for most of the existing cells in the body.

INFORMATION:

The research was supported by the National Institutes of Health and by the Rocket Fund.

Reference: M.A. Jones et al. DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation, online first, Am. J. Hum. Gen (2012). doi:10.1016/j.ajhg.2011.12.024

Writer: Quinn Eastman

END



ELSE PRESS RELEASES FROM THIS DATE:

Beverly Hills DUI Attorney, Amir Soleimanian, Offers Legal Assistance for Fighting DUI Charges

Beverly Hills DUI Attorney, Amir Soleimanian, Offers Legal Assistance for Fighting DUI Charges
2012-02-06
With major gaming events, national holidays, and sunny weather just around the corner, the California Office of Traffic Safety is now paying out huge sums to curb drinking and driving ("California Traffic Deaths Drop For Fifth Consecutive Year"). When all it takes is a single drink to be over the legal limit, this means that countless drivers in Southern California are going to be facing a driving under the influence charges this upcoming year. Amir Soleimanian, Beverly Hills DUI attorney, offers legal assistance for those drivers charged with DUI who want to ...

Why 2 new studies represent important breakthrough in Alzheimer's disease research

2012-02-06
Clarksburg, MD—Two different research groups have independently made the same important discoveries on how Alzheimer's disease spreads in the brain, according to a February 2 New York Times story. The groups' findings have the potential to give us a much more sophisticated understanding of what goes wrong in Alzheimer's disease and, more importantly, what can be done to prevent or repair damage in the brain. The Times reported on the research teams of Bradley T. Hyman, MD, Ph.D., at Massachusetts General Hospital in Boston, and Karen E. Duff, Ph.D., of Columbia University ...

Hearing metaphors activates brain regions involved in sensory experience

2012-02-06
When a friend tells you she had a rough day, do you feel sandpaper under your fingers? The brain may be replaying sensory experiences to help understand common metaphors, new research suggests. Linguists and psychologists have debated how much the parts of the brain that mediate direct sensory experience are involved in understanding metaphors. George Lakoff and Mark Johnson, in their landmark work 'Metaphors we live by', pointed out that our daily language is full of metaphors, some of which are so familiar (like "rough day") that they may not seem especially novel or ...

Henry Ford Hospital researchers identity potential biomarker for osteoarthritis

Henry Ford Hospital researchers identity potential biomarker for osteoarthritis
2012-02-06
DETROIT – Henry Ford Hospital researchers have identified for the first time two molecules that hold promise as a biomarker for measuring cartilage damage associated with osteoarthritis. Researchers say the concentration of two molecules called non-coding RNAs in blood were associated with mild cartilage damage in 30 patients who were one year removed from reconstruction surgery to repair an anterior cruciate ligament, or ACL, injury. The findings are described as significant in the ongoing and tedious search of biomarkers for osteoarthritis, the most common form of ...

Materials for first optical fibers with high-speed electronic function are developed

Materials for first optical fibers with high-speed electronic function are developed
2012-02-06
For the first time, a group of chemists, physicists, and engineers has developed crystalline materials that allow an optical fiber to have integrated, high-speed electronic functions. The potential applications of such optical fibers include improved telecommunications and other hybrid optical and electronic technologies, improved laser technology, and more-accurate remote-sensing devices. The research was initiated by Rongrui He, a postdoctoral researcher in the Department of Chemistry at Penn State University. The international team, led by John Badding, a professor of ...

ZyLAB Launches 2012 Webinar Series with a Deep Dive into the eDiscovery Challenges for Construction Litigation on February 15

2012-02-06
Today, ZyLAB, a leading eDiscovery and information management technology company, officially opened registration for "De-Construction eDiscovery: Special Challenges in Construction Litigation," featuring Steven C. Bennett, a partner with Jones Day in New York City, and Mary Mack, Esq., enterprise technology counsel for ZyLAB. The live, online event takes place on Wednesday, February 15, 2012 at 1:00 EST. To register, please visit https://www3.gotomeeting.com/register/843596078. This program qualifies for one New York Areas of Professional Practice CLE credit. "In ...

Land-cover changes do not impact glacier loss

2012-02-06
This press release is available in German. The composition of land surface – such as vegetation type and land use – regulates the interaction of radiation, sensible heat and humidity between the land surface and the atmosphere and, thus, influences ground level climate directly. For the first time, the Innsbruck climate scientists quantitatively examined whether land-cover changes (LCC) may potentially affect glacier loss. "We used Kilimanjaro in East Africa as a test case, where a significant decrease of forests at elevations between 1,800 and 3,000 meters, caused by ...

Genetic variant increases risk of common type stroke

2012-02-06
A genetic variant that increases the risk of a common type of stroke has been identified by scientists in a study published online in Nature Genetics today. This is one of the few genetic variants to date to be associated with risk of stroke and the discovery opens up new possibilities for treatment. Stroke is the second leading cause of death worldwide (more than one in 10 of all deaths, and over six million deaths annually), and also in developed countries is a major cause of chronic disability. As the world's populations age the impact of stroke on wellbeing is likely ...

Spine Injury Information Many Doctors Don't Explain

2012-02-06
How is a spine injury patient supposed to make an informed decision about his/her medical care if they don't understand the basics about the spine? The problem isn't as bad as it was a few decades ago, but many doctors still don't adequately explain the anatomy of the spine, the reasons for a patient's pain and the anticipated treatment plan when a patient goes to an orthopedist or neurosurgeon. All too frequently, I find myself performing the treating doctor's job by having to explain information to new clients that should have come from the doctor. Spine Anatomy: The ...

Crystalline materials enable high-speed electronic function in optical fibers

2012-02-06
Scientists at the University of Southampton, in collaboration with Penn State University have, for the first time, embedded the high level of performance normally associated with chip-based semiconductors into an optical fibre, creating high-speed optoelectronic function. The potential applications of such optical fibres include improved telecommunications and other hybrid optical/electronic technologies. This transatlantic team will publish its findings in the journal Nature Photonics this month. The team has taken a novel approach to the problems traditionally associated ...

LAST 30 PRESS RELEASES:

Premenstrual symptoms linked to increased risk of cardiovascular disease

Newly discovered remains of ancient river landscapes control ice flow in East Antarctica

Newly discovered interstellar object 'may be oldest comet ever seen'

Animal-inspired AI robot learns to navigate unfamiliar terrain

Underserved youth less likely to visit emergency department for concussion in Ontario, study finds

‘Molecular shield’ placed in the nose may soon treat common hay fever trigger

Beetles under climate stress lay larger male eggs: Wolbachia infection drives adaptive reproduction strategy in response to rising temperature and CO₂

Groundbreaking quantum study puts wave-particle duality to work

Weekly injection could be life changing for Parkinson’s patients

Toxic metals linked to impaired growth in infants in Guatemala

Being consistently physically active in adulthood linked to 30–40% lower risk of death

Nerve pain drug gabapentin linked to increased dementia, cognitive impairment risks

Children’s social care involvement common to nearly third of UK mums who died during perinatal period

‘Support, not judgement’: Study explores links between children’s social care involvement and maternal deaths

Ethnic minority and poorer children more likely to die in intensive care

Major progress in fertility preservation after treatment for cancer of the lymphatic system

Fewer complications after additional ultrasound in pregnant women who feel less fetal movement

Environmental impact of common pesticides seriously underestimated

The Milky Way could be teeming with more satellite galaxies than previously thought

New study reveals surprising reproductive secrets of a cricket-hunting parasitoid fly

Media Tip Sheet: Symposia at ESA2025

NSF CAREER Award will power UVA engineer’s research to improve drug purification

Tiny parasitoid flies show how early-life competition shapes adult success

New coating for glass promises energy-saving windows

Green spaces boost children’s cognitive skills and strengthen family well-being

Ancient trees dying faster than expected in Eastern Oregon

Study findings help hone precision of proven CVD risk tool

Most patients with advanced melanoma who received pre-surgical immunotherapy remain alive and disease free four years later

Introducing BioEmu: A generative AI Model that enables high-speed and accurate prediction of protein structural ensembles

Replacing mutated microglia with healthy microglia halts progression of genetic neurological disease in mice and humans

[Press-News.org] Whole exome sequencing identifies cause of metabolic disease