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

Gene mutation discovered in blood disorder

CHOP expert, collaborators identify mutation in aplastic anemia that shortens telomeres on ends of chromosomes

Gene mutation discovered in blood disorder
2014-09-23
(Press-News.org) An international team of scientists has identified a gene mutation that causes aplastic anemia, a serious blood disorder in which the bone marrow fails to produce normal amounts of blood cells. Studying a family in which three generations had blood disorders, the researchers discovered a defect in a gene that regulates telomeres, chromosomal structures with crucial roles in normal cell function.

"Identifying this causal defect may help suggest future molecular-based treatments that bypass the gene defect and restore blood cell production," said study co-leader Hakon Hakonarson, M.D., Ph.D., director of the Center for Applied Genomics at The Children's Hospital of Philadelphia (CHOP).

Hakonarson and CHOP colleagues collaborated with Australian scientists on the study, published online Sept. 9 in the journal Blood.

"We're thrilled by this discovery which has advanced our understanding of certain gene mutations and the causal relationship to specific diseases," said study co-leader Tracy Bryan, Ph.D., Unit Head of the Cell Biology Unit at the Children's Medical Research Institute in Westmead, New South Wales, Australia.

The research team studied an Australian family with aplastic anemia and other blood disorders, including leukemia. Hakonarson and lead analyst Yiran Guo, Ph.D., along with genomics experts from BGI-Shenzhen, performed whole-exome sequencing on DNA from the families and identified an inherited mutation on the ACD gene, which codes for the telomere-binding protein TPP1.

Telomeres, complex structures made of DNA and protein, are located on the end of chromosomes, where they protect the chromosomes' stability. They are sometimes compared to plastic tips at the end of shoelaces that prevent the laces from fraying.

Telomeres shorten after each cell division, and gradually lose their protective function. Aging cells, with their shortened telomeres, become progressively more vulnerable to DNA damage and cell death. Separately from the aging process, certain inherited and acquired disorders may shorten telomeres and injure rapidly dividing blood-forming cells produced in bone marrow. This leads to bone marrow failure, one example of which is aplastic anemia.

Bryan's team investigated the function of the ACD gene. They determined that the mutation shortened telomeres and interrupted the ability of telomeres to attract the enzyme telomerase, which counteracts telomere shortening and thus protects cells.

In the current study, the researchers showed that the mutation in ACD alters the telomere-binding protein TPP1, disrupting the interactions between telomere and telomerase. Without access to telomerase to help maintain telomeres, blood cells lose their structural integrity and die, resulting in bone marrow failure and aplastic anemia.

Nine other genes were previously found to play a role in bone marrow failure disorders. The current study adds ACD to the list, the first time the gene has been shown to have a disease-causing role.

"This improved understanding of the underlying molecular mechanisms may suggest new approaches to treating disorders such as aplastic anemia," said Hakonarson. "For instance, investigators may identify other avenues for recruiting telomerase to telomeres to restore its protective function."

INFORMATION: Guo Y et al, "Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1," Blood, published online Sept 9, 2014. http://doi.org/10.1182/blood-2014-08-596445

In addition to his position at CHOP, Hakonarson also is on the faculty of the Perelman School of Medicine at the University of Pennsylvania. Study funding came from an Institutional Development Award to the Center for Applied Genomics from The Children's Hospital of Philadelphia, a Cancer Institute NSW Career Development and Support Fellowship, the Kids Cancer Alliance and the Cancer Council NSW, among other sources.

About The Children's Hospital of Philadelphia: The Children's Hospital of Philadelphia was founded in 1855 as the nation's first pediatric hospital. Through its long-standing commitment to providing exceptional patient care, training new generations of pediatric healthcare professionals and pioneering major research initiatives, Children's Hospital has fostered many discoveries that have benefited children worldwide. Its pediatric research program receives the highest amount of National Institutes of Health funding among all U.S. children's hospitals. In addition, its unique family-centered care and public service programs have brought the 535-bed hospital recognition as a leading advocate for children and adolescents. For more information, visit http://www.chop.edu.

[Attachments] See images for this press release:
Gene mutation discovered in blood disorder

ELSE PRESS RELEASES FROM THIS DATE:

NASA sees Tropical Depression Fung-Wong becoming more frontal

NASA sees Tropical Depression Fung-Wong becoming more frontal
2014-09-23
Tropical Depression Fung-Wong skirted the coast of mainland China and is moving through the East China Sea. NASA's Aqua satellite captured cloud top temperature data that showed strongest thunderstorms were stretched out as the storm continues to look more frontal in nature. When NASA's Aqua satellite passed over Fung-Wong on Sept. 22 at 1:23 p.m. EDT, the Atmospheric Infrared Sounder or AIRS instrument read cloud top temperatures. AIRS detected strongest, highest storms, those with the coldest cloud tops stretched out from northwest to southeast giving the depression ...

New research suggests sleep apnea screening before surgery

New research suggests sleep apnea screening before surgery
2014-09-23
Scheduled for surgery? New research suggests that you may want to get screened and treated for obstructive sleep apnea (OSA) before going under the knife. According to a first-of-its-kind study in the October issue of Anesthesiology, the official medical journal of the American Society of Anesthesiologists® (ASA®), patients with OSA who are diagnosed and treated for the condition prior to surgery are less likely to develop serious cardiovascular complications such as cardiac arrest or shock. "OSA is a common disorder that affects millions and is associated with an increased ...

Recreating the stripe patterns found in animals by engineering synthetic gene networks

Recreating the stripe patterns found in animals by engineering synthetic gene networks
2014-09-23
VIDEO: Researchers at the CRG try to understand how networks of genes work together to create specific patterns like stripes. They have gone beyond studying individual networks and have created computational and... Click here for more information. Pattern formation is essential in the development of animals and plants. The central problem in pattern formation is how can genetic information be translated in a reliable manner to give specific spatial patterns of cellular differentiation. ...

Airway muscle-on-a-chip mimics asthma

Airway muscle-on-a-chip mimics asthma
2014-09-23
The majority of drugs used to treat asthma today are the same ones that were used 50 years ago. New drugs are urgently needed to treat this chronic respiratory disease, which causes nearly 25 million people in the United States alone to wheeze, cough, and find it difficult at best to take a deep breath. But finding new treatments is tough: asthma is a patient-specific disease, so what works for one person doesn't necessarily work for another, and the animal models traditionally used to test new drug candidates often fail to mimic human responses – costing tremendous ...

Eating five a day may keep the blues away

2014-09-23
Fruit and vegetable consumption could be as good for your mental as your physical health, new research suggests. The research, conducted by the University of Warwick's Medical School using data from the Health Survey for England, and published by BMJ Open focused on mental wellbeing and found that high and low mental wellbeing were consistently associated with an individual's fruit and vegetable consumption. 33.5% of respondents with high mental wellbeing ate five or more portions of fruit and vegetables a day, compared with only 6.8% who ate less than one portion. ...

Southampton scientists grow a new challenger to graphene

2014-09-23
A team of researchers from the University of Southampton's Optoelectronics Research Centre (ORC) has developed a new way to fabricate a potential challenger to graphene. Graphene, a single layer of carbon atoms in a honeycomb lattice, is increasingly being used in new electronic and mechanical applications, such as transistors, switches and light sources, thanks to the unprecedented properties it offers: very low electrical resistance, high thermal conductivity and mechanically stretchable yet harder than diamond. Now, ORC researchers have developed molybdenum di-sulphide ...

Search for better biofuels microbes leads to the human gut

Search for better biofuels microbes leads to the human gut
2014-09-23
CHAMPAIGN, Ill. — Scientists have scoured cow rumens and termite guts for microbes that can efficiently break down plant cell walls for the production of next-generation biofuels, but some of the best microbial candidates actually may reside in the human lower intestine, researchers report. Their study, reported in the Proceedings of the National Academy of Sciences, is the first to use biochemical approaches to confirm the hypothesis that microbes in the human gut can digest fiber, breaking it down into simple sugars in order to ferment them into nutrients that nourish ...

Results of the 1st EORTC Cancer Survivorship Summit

2014-09-23
A special issue of the European Journal of Cancer presents detailed reports on the wide range of research presented during the 1st EORTC Cancer Survivorship Summit held this past January in Brussels, Belgium. Early diagnosis, targeted therapeutics, and more personalized multimodal treatments has boosted survival rates of patients with cancer and led to a large and rapidly increasing number of cancer survivors. Despite this good news, cancer survivors are often confronted with a broad spectrum of late adverse treatment effects and some must also deal with societal discrimination ...

Nanotubes help healing hearts keep the beat

2014-09-23
Carbon nanotubes serve as bridges that allow electrical signals to pass unhindered through new pediatric heart-defect patches invented at Rice University and Texas Children's Hospital. A team led by bioengineer Jeffrey Jacot and chemical engineer and chemist Matteo Pasquali created the patches infused with conductive single-walled carbon nanotubes. The patches are made of a sponge-like bioscaffold that contains microscopic pores and mimics the body's extracellular matrix. The nanotubes overcome a limitation of current patches in which pore walls hinder the transfer ...

Study uncovers genetic driver of inflammation, uses it to prevent and treat liver cancer

Study uncovers genetic driver of inflammation, uses it to prevent and treat liver cancer
2014-09-23
Inflammation has been shown to be a driving force behind many chronic diseases, especially liver cancer, which often develops due to chronic inflammation caused by conditions such as viral hepatitis or alcoholism and has relatively few effective treatment options. Now, scientists at Virginia Commonwealth University Massey Cancer Center have demonstrated for the first time in preclinical studies that blocking the expression of a gene known as astrocyte elevated gene-1 (AEG-1) halts the development and progression of liver cancer by regulating inflammation. This research ...

LAST 30 PRESS RELEASES:

From octopus intelligence to smart artificial blood vessels: 2025 Schmidt Science Fellows to break new ground with interdisciplinary research

Experts challenge aspirin guidelines based on their undue reliance on a flawed trial

McGill discovery sheds new light on autism, intellectual disabilities

Cellular changes occur even below the hexavalent chromium limit

Study suggests a new way to curb social media’s body image toll

Plant doctor: An AI system that watches over urban trees without touching a leaf

Study tracks chromium chemistry in irradiated molten salts

Scientists: the beautiful game is a silver bullet for global health

Being physically active, even just a couple of days a week, may be key to better health

High-fat diet promote breast cancer metastasis in animal models

A router for photons

Nurses and AI collaborate to save lives, reduce hospital stays

Multi-resistance in bacteria predicted by AI model

Tinker Tots: A citizen science project to explore ethical dilemmas in embryo selection

Sensing sickness

Cost to build multifamily housing in California more than twice as high as in Texas

Program takes aim at drinking, unsafe sex, and sexual assault on college campuses

Inability to pay for healthcare reaches record high in U.S.

Science ‘storytelling’ urgently needed amid climate and biodiversity crisis

KAIST Develops Retinal Therapy to Restore Lost Vision​

Adipocyte-hepatocyte signaling mechanism uncovered in endoplasmic reticulum stress response

Mammals were adapting from life in the trees to living on the ground before dinosaur-killing asteroid

Low LDL cholesterol levels linked to reduced risk of dementia

Thickening of the eye’s retina associated with greater risk and severity of postoperative delirium in older patients

Almost one in ten people surveyed report having been harmed by the NHS in the last three years

Enhancing light control with complex frequency excitations

New research finds novel drug target for acute myeloid leukemia, bringing hope for cancer patients

New insight into factors associated with a common disease among dogs and humans

Illuminating single atoms for sustainable propylene production

New study finds Rocky Mountain snow contamination

[Press-News.org] Gene mutation discovered in blood disorder
CHOP expert, collaborators identify mutation in aplastic anemia that shortens telomeres on ends of chromosomes