Navigation Links
UTHealth researchers gain insights into severe form of dwarfism
Date:9/3/2014

HOUSTON (Sept. 3, 2014) A better understanding of the pathology of a severe form of dwarfism as well as a possible window of treatment have been discovered by researchers at The University of Texas Health Science Center at Houston (UTHealth).

The preclinical research was published in a recent issue of the Journal of Bone and Mineral Research.

Pseudoachondroplasia (PSACH) is a disorder that affects the cells in the growth plate, resulting in dwarfism, limb deformities, joint pain and early onset osteoarthritis. Children with PSACH show no signs of it at birth. Slowing of the long bone growth begins around age 2 and the cellular damage becomes extensive by age 4. The disorder is caused by mutations in the cartilage oligomeric matrix protein (COMP) that is situated near cells known as chondrocytes, which play a key role in bone formation.

"By the time patients are in their late 20s, many have had both knees and hips replaced. They have severe joint pain and their mobility is very restricted," said first author Karen Posey, Ph.D., assistant professor of pediatrics at the UTHealth Medical School.

Previous studies of PSACH have been limited, relying on cultured PSACH cells or samples taken from human biopsies, and have not led to the development of feasible treatment options. Researchers recognized that they need a better method to study the disorder, which affects approximately 1 in 30,000 people.

"We generated a mouse with the human COMP gene that contains the most common mutation causing PSACH. Similar to how the disease manifests in humans, these genetically engineered mice appear normal at birth, but later show symptoms of PSACH, giving us a unique opportunity to potentially pinpoint when changes occur and when treatment may be most effective," Posey said.

The research team examined the mice at different stages of development to track the disorder's progression. They found that about two weeks after birth (which equates to about four years in humans), a large number of chondrocyte cells have died and symptoms worsen. They also found inflammation in the growth plate and cartilage of the joints, suggesting the beginning of osteoarthritis.

To determine if there was a way to reduce the effects of the disorder at its earliest stages, the researchers administered three different medicationslithium, phenylbutyric acid and valproate. They found that the drugs successfully lessened the damage to chondrocyte cells in the growth plate, but each drug resulted in significant side effects. Nevertheless, the results were promising.

"Although these drugs in particular are not viable treatment options, our findings do provide a foundation for the development of a therapy that would reduce inflammation in the growth plate chondrocytes," Posey said. "We also identified an optimal treatment windowstarting around age 2, when most of the cells in the growth plates are still viable and widespread cell death has not yet occurred. Once growth plate chondrocytes have been depleted, generally around age 4, treatments likely would have little effect." Posey said they are now studying other medications.

This work builds on previous research by the paper's senior author Jacqueline T. Hecht, Ph.D., associate dean of research for the UTHealth School of Dentistry, professor and director of the Pediatric Research Center and vice chair for research in the Department of Pediatrics at the UTHealth Medical School. She also serves on the faculty of The University of Texas Graduate School for Biomedical Sciences at Houston. A team led by Hecht discovered the defective COMP gene in 1995.


'/>"/>
Contact: Deborah Mann Lake
deborah.m.lake@uth.tmc.edu
University of Texas Health Science Center at Houston
Source:Eurekalert  

Related medicine news :

1. UTHealth, French researchers discover gene defect for new syndrome
2. UTHealth research shows American Indians at greater risk of suicide after alcohol intoxication
3. UTHealth: Alcohol consumption may be in response to smoking cessation
4. UTHealth research: Low incidence of venous insufficiency in MS
5. UTHealth researchers say more rapid test for Group B strep successful
6. UTHealth research: Vermonts health care reform has lessons for other states
7. Sugar overload can damage heart according to UTHealth research
8. UTHealth, Swedish researchers uncover mystery in blood clotting disorder
9. UTHealth study aims to change traditional approach to preventing pressure ulcers
10. UTHealth named one of nations NIH stroke network centers
11. UTHealth program results in happier patients, lower costs in esophageal surgery
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
UTHealth researchers gain insights into severe form of dwarfism
(Date:9/20/2017)... ... ... “Finn Mouseson”: follows the exciting story of a mouse as the need ... on a journey that will show that friends are to be gathered but home ... and illustrator, Melody Gersonde-Mickelson, who has earned a bachelor’s degree in Fine Arts from ...
(Date:9/20/2017)... ... September 20, 2017 , ... “Psalms of Humidity”: is a fascinating depiction of ... the readers one step closer to God. “Psalms of Humidity” is the creation of ... have been made within his life are the very same things that have shaped ...
(Date:9/20/2017)... ... 20, 2017 , ... “They Sang At Her Funeral”: a tale of murder ... the skeletons in their closets. “They Sang At Her Funeral” is the creation of ... and married with five children and twelve grandchildren. Before becoming a writer, Annalise had ...
(Date:9/19/2017)... ... September 19, 2017 , ... Only a few physicians were selected ... own Ross A. Clevens, MD, FACS . The founder and medical director of ... Reconstructive Surgeon who trained at Yale, Harvard and the University of Michigan. He has ...
(Date:9/19/2017)... ... 19, 2017 , ... Trusted debt-reduction firm CreditAssociates, LLC has announced two important ... excess of $835 million in resolved debt for its clients. , Credit card debt, ... the categories of debt settled by the company. With more than a decade of ...
Breaking Medicine News(10 mins):
(Date:9/7/2017)... , Sept. 7, 2017 NuvoAir (formerly ... Spirometer, announced today a partnership with Novartis Pharma AG to ... NuvoAir,s position as the leading mobile spirometry platform and Novartis, ... ... ...
(Date:9/6/2017)... PDI , a leader in infection prevention products and ... focused on the role of chlorhexidine gluconate (CHG) in ... Annual Scientific Meeting of the Association for Vascular Access. ... Phoenix Convention Center in ... feature PDI,s Prevantics® Device Swab as the ...
(Date:9/5/2017)... 2017  Getinge, a leading global provider of ... donation program -- "Color for the Kids!" -- ... research by The Children,s Heart Foundation. Pediatric patients ... are encouraged to download a coloring picture at ... to the gallery on the website. For each ...
Breaking Medicine Technology: