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

Gene mutation in dogs offers clues for neural tube defects in humans

2013-07-20
(Press-News.org) A gene related to neural tube defects in dogs has for the first time been identified by researchers at the University of California, Davis, and University of Iowa.

The researchers also found evidence that the gene may be an important risk factor for human neural tube defects, which affect more than 300,000 babies born each year around the world, according to the U.S. Centers for Disease Control and Prevention. Neural tube defects, including anencephaly and spina bifida, are caused by the incomplete closure or development of the spine and skull.

The new findings appear this week in the journal PLOS Genetics.

"The cause of neural tube defects is poorly understood but has long been thought to be associated with genetic, nutritional and environmental factors," said Noa Safra, lead author on the study and a postdoctoral fellow in the laboratory of Professor Danika Bannasch in the UC Davis School of Veterinary Medicine.

She noted that dogs provide an excellent biomedical model because they receive medical care comparable to what humans receive, share in a home environment and develop naturally occurring diseases that are similar to those found in humans. More specifically, several conditions associated with neural-tube defects are known to occur naturally in dogs. All DNA samples used in the study were taken from household pets, rather than laboratory animals, Safra said.

She and colleagues carried out genome mapping in four Weimaraner dogs affected by spinal dysraphism, a naturally occurring spinal-cord disorder, and in 96 such dogs that had no neural tube defects. Spinal dysraphism, previously reported in the Weimaraner breed, causes symptoms that include impaired motor coordination or partial paralysis in the legs, abnormal gait, a crouched stance and abnormal leg or paw reflexes.

Analysis of a specific region on canine chromosome eight led the researchers to a mutation in a gene called NKX2-8, one of a group of genes known as "homeobox genes," known to be involved with regulating patterns of anatomical development in the embryo.

The researchers determined that the NKX2-8 mutation occurred in the Weimaraner breed with a frequency of 1.4 percent — 14 mutations in every 1,000 dogs.

Additionally, they tested nearly 500 other dogs from six different breeds that had been reported to be clinically affected by neural tube defects, but did not find copies of the NKX2-8 gene mutation among the non-Weimaraner dogs.

"The data indicate that this mutation does not appear as a benign mutation in some breeds, while causing defects in other breeds," Safra said. "Our results suggest that the NKX2-8 mutation is a 'private' mutation in Weimaraners that is not shared with other breeds."

The researchers say that identification of such a breed-specific gene may help veterinarians diagnose spinal dysraphism in dogs and enable Weimaraner breeders to use DNA screening to select against the mutation when developing their breeding plans.

In an effort to investigate a potential role for the NKX2-8 mutation in cases of neural tube defects in people, the researchers also sequenced 149 unrelated samples from human patients with spina bifida. They found six cases in which the patients carried mutations of the NKX2-8 gene but stress that further studies are needed to confirm whether these mutations are responsible for the diagnosed neural tube defects.



INFORMATION:

Collaborating with Safra were Danika Bannasch, Miriam Aguilar, Rochelle L. Coulson, Nicholas Thomas, Peta L. Hitchens, Peter J. Dickinson and Karen M. Vernau, and Zena T. Wolf, all of UC Davis; and Alexander G. Bassuk and Polly J. Ferguson, both of the University of Iowa.

Funding for the study was provided by the Center for Companion Animal Health in the UC Davis School of Veterinary Medicine, the National Institute of Allergy and Infectious Diseases and the Weimaraner Club of America.

About UC Davis

For more than 100 years, UC Davis has engaged in teaching, research and public service that matter to California and transform the world. Located close to the state capital, UC Davis has more than 33,000 students, more than 2,500 faculty and more than 21,000 staff, an annual research budget of nearly $750 million, a comprehensive health system and 13 specialized research centers. The university offers interdisciplinary graduate study and more than 100 undergraduate majors in four colleges — Agricultural and Environmental Sciences, Biological Sciences, Engineering, and Letters and Science. It also houses six professional schools — Education, Law, Management, Medicine, Veterinary Medicine and the Betty Irene Moore School of Nursing.

Media contact(s):

Noa Safra, School of Veterinary Medicine, (530) 752-1317, nsafra@ucdavis.edu
Pat Bailey, UC Davis News Service, (530) 752-9843, pjbailey@ucdavis.edu



ELSE PRESS RELEASES FROM THIS DATE:

Stem cell discovery furthers research on cell-based therapy and cancer

2013-07-20
Stem-cell researchers at UC San Francisco have found a key role for a protein called BMI1 that may help scientists direct the development of tissues to replace damaged organs in the human body. “Scientists have known that Bmi1 is a central control switch within the adult stem cells of many tissues, including the brain, blood, lung and mammary gland,” said Ophir Klein, MD, PhD, who directs the Craniofacial and Mesenchymal Biology (CMB) Program and serves as chair of the Division of Craniofacial Anomalies at UCSF. “Bmi1 also is a cancer-causing gene that becomes ...

Researchers describe potential for MERS coronavirus to spread internationally

2013-07-20
TORONTO, July 19, 2013—The life-threatening MERS coronavirus that has emerged in the Middle East could spread faster and wider during two international mass gatherings involving millions of people in the next few months, according to researchers who describe the most likely pathways of international spread based upon worldwide patterns of air travel. Researchers led by Dr. Kamran Khan of St. Michael's Hospital encouraged health care providers to learn from the experience of SARS by anticipating rather than reacting to the introduction of MERS in travelers returning from ...

Study finds missing piece of pediatric cancer puzzle

2013-07-20
Most of the time, it takes decades of accumulating genetic errors for a tumor to develop. While this explains the general occurrence of cancer in adults, it leaves a gap in understanding of the cause of pediatric tumors. In a study published in the July issue of the Proceedings of the National Academy of Sciences, researchers found a missing piece of the pediatric cancer puzzle. Changxian Shen, PhD, senior research associate at the Center for Childhood Cancer and Blood Diseases at The Research Institute at Nationwide Children's Hospital, and Peter Houghton, PhD, director ...

Large coronal hole near the sun's north pole

2013-07-20
The European Space Agency/NASA Solar and Heliospheric Observatory, or SOHO, captured this image of a gigantic coronal hole hovering over the sun's north pole on July 18, 2013, at 9:06 a.m. EDT. Coronal holes are dark, low density regions of the sun's outermost atmosphere, the corona. They contain little solar material, have lower temperatures, and therefore, appear much darker than their surroundings. Coronal holes are a typical feature on the sun, though they appear at different places and with more frequency at different times of the sun's activity cycle. The activity ...

Deadliest cancers may respond to new drug treatment strategy

2013-07-19
UC San Francisco researchers have found a way to knock down cancers caused by a tumor-driving protein called “myc,” paving the way for patients with myc-driven cancers to enroll in clinical trials for experimental treatments. Myc acts somewhat like a master switch within cells to foster uncontrolled growth. Until now, it has been impossible to target with drugs. The discovery of an unexpected biochemical link within tumor cells should lead to clinical trials for experimental drug treatments that indirectly target myc and that already are being evaluated in human ...

A constitutional right to health care

2013-07-19
Uruguay has it. So does Latvia, and Senegal. In fact, more than half of the world's countries have some degree of a guaranteed, specific right to public health and medical care for their citizens written into their national constitutions. The United States is one of 86 countries whose constitutions do not guarantee their citizens any kind of health protection. That's the finding of a new study from the UCLA Fielding School of Public Health that examined the level and scope of constitutional protection of specific rights to public health and medical care, as well as ...

A warmer planetary haven around cool stars, as ice warms rather than cools

2013-07-19
In a bit of cosmic irony, planets orbiting cooler stars may be more likely to remain ice-free than planets around hotter stars. This is due to the interaction of a star's light with ice and snow on the planet's surface. Stars emit different types of light. Hotter stars emit high-energy visible and ultraviolet light, and cooler stars give off infrared and near-infrared light, which has a much lower energy. It seems logical that the warmth of terrestrial or rocky planets should depend on the amount of light they get from their stars, all other things being equal. But new ...

Lizards show evolution is predictable

2013-07-19
If you could hit the reset button on evolution and start over, would essentially the same species appear? Yes, according to a study of Caribbean lizards by researchers at the University of California, Davis, Harvard University and the University of Massachusetts. The work is published July 19 in the journal Science. The predictability of evolution over timescales of millions of years has long been debated by biologists, said Luke Mahler, a postdoctoral fellow at UC Davis and first author on the paper. For example, the late Stephen Jay Gould predicted that if you "rewound ...

Is sexual addiction the real deal?

2013-07-19
Controversy exists over what some mental health experts call "hypersexuality," or sexual "addiction." Namely, is it a mental disorder at all, or something else? It failed to make the cut in the recently updated Diagnostic and Statistical Manual of Mental Disorders, or DSM-5, considered the bible for diagnosing mental disorders. Yet sex addiction has been blamed for ruining relationships, lives and careers. Now, for the first time, UCLA researchers have measured how the brain behaves in so-called hypersexual people who have problems regulating their viewing of sexual ...

NUS researchers developed world's first water treatment techniques using apple and tomato peels

2013-07-19
One of the most crucial problems affecting the world today is the scarcity of potable water. In a bid to make clean water available at low cost, Mr Ramakrishna Mallampati, a PhD candidate at the National University of Singapore (NUS), experimented with water treatment techniques using materials that are easily available, and came up with novel ways to purify water using the peels of apples and tomatoes. This is the first time that the peels of the two fruits have been used to remove different types of pollutants in water. The studies were conducted under the guidance ...

LAST 30 PRESS RELEASES:

Less intensive works best for agricultural soil

Arctic rivers project receives “national champion” designation from frontiers foundation

Computational biology paves the way for new ALS tests

Study offers new hope for babies born with opioid withdrawal syndrome

UT, Volkswagen Group of America celebrate research partnership

New Medicare program could dramatically improve affordability for cancer drugs – if patients enroll

Are ‘zombie’ skin cells harmful or helpful? The answer may be in their shapes

University of Cincinnati Cancer Center presents research at AACR 2025

Head and neck, breast, lung and survivorship studies headline Dana-Farber research at AACR Annual Meeting 2025

AACR: Researchers share promising results from MD Anderson clinical trials

New research explains why our waistlines expand in middle age

Advancements in muon detection: Taishan Antineutrino Observatory's innovative top veto tracker

Chips off the old block

Microvascular decompression combined with nerve combing for atypical trigeminal neuralgia

Cutting the complexity from digital carpentry

Lung immune cell type “quietly” controls inflammation in COVID-19

Fiscal impact of expanded Medicare coverage for GLP-1 receptor agonists to treat obesity

State and sociodemographic trends in US cigarette smoking with future projections

Young adults drive historic decline in smoking

NFCR congratulates Dr. Robert C. Bast, Jr. on receiving the AACR-Daniel D. Von Hoff Award for Outstanding Contributions to Education and Training in Cancer Research

Chimpanzee stem cells offer new insights into early embryonic development

This injected protein-like polymer helps tissues heal after a heart attack

FlexTech inaugural issue launches, pioneering interdisciplinary innovation in flexible technology

In Down syndrome mice, 40Hz light and sound improve cognition, neurogenesis, connectivity

Methyl eugenol: potential to inhibit oxidative stress, address related diseases, and its toxicological effects

A vascularized multilayer chip reveals shear stress-induced angiogenesis in diverse fluid conditions

AI helps unravel a cause of Alzheimer's disease and identify a therapeutic candidate

Coalition of Autism Scientists critiques US Department of Health and Human Services Autism Research Initiative

Structure dictates effectiveness, safety in nanomedicine

Mission accomplished for the “T2T” Hong Kong Bauhinia Genome Project

[Press-News.org] Gene mutation in dogs offers clues for neural tube defects in humans