Researchers identify biochemical mechanism behind a rare, painful genetic disease

December 13, 2016

Researchers identify biochemical mechanism behind a rare, painful genetic disease

NIH-supported study might open door to first effective treatment for ACDC disease

WHAT: A team of researchers at the National Institutes of Health has uncovered a possible biochemical mechanism behind a rare, painful genetic disorder called ACDC disease, which causes calcium buildup in the arteries. The finding could lead to the first effective treatment for the potentially debilitating condition and might provide insight into other vascular diseases, including atherosclerosis, the researchers say. The study is in the Dec. 13 issue of Science Signaling. ACDC is short for arterial calcification due to deficiency of CD73. (CD73 is an enzyme that reduces calcium buildup in the arteries). The disease targets the hands and feet and can limit a person's ability to walk and exercise.

In the current study, researchers discovered how a deficiency of CD73 triggers a cascade of adverse biochemical events that leads to increased calcium buildup. That discovery quickly fueled progress on a possible treatment. Scientists generated stem cells from the skin of patients with ACDC disease and injected them into mouse models. They found that tissue formed in the mice by the patient-derived cells calcified over time. The researchers showed that treating these mice with several drugs including etidronate, which is used to strengthen bone in certain diseases involving bone loss, helped reduce calcification of the human tissue. The findings suggest that a similar strategy might help treat people with ACDC disease.
-end-
In addition to funding by the National Heart, Lung, and Blood Institute (NHLBI), the study was supported by the Ministry of Science and Technology of China and the National Natural Science Foundation of China. Researchers with the National Human Genome Research Institute (NHGRI) and the National Institute of Neurological Disorders and Stroke (NINDS) also contributed to this study.

WHO: Manfred Boehm, M.D., Senior Investigator, Laboratory of Cardiovascular Regenerative Medicine, NHLBI, is available to comment on the findings and implications of this research.

CONTACT: For more information or to schedule an interview, please contact the NHLBI Office of Science Policy, Engagement, Education, and Communications at 301-496-5449 or nhlbi_news@nhlbi.nih.gov (link sends e-mail).

About the National Heart, Lung, and Blood Institute (NHLBI): NHLBI, a part of the National Institutes of Health (NIH), plans, conducts, and supports research related to the causes, prevention, diagnosis, and treatment of heart, blood vessel, lung, and blood diseases; and sleep disorders. The Institute also administers national health education campaigns on women and heart disease, healthy weight for children, and other topics. NHLBI press releases and other materials are available online at http://www.nhlbi.nih.gov.

About the National Institutes of Health (NIH): NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit http://www.nih.gov.

NIH...Turning Discovery Into Health

NIH/National Heart, Lung and Blood Institute

Related Treatment Articles from Brightsurf:

Treatment for teen anxiety
In a new National Institute of Mental Health-funded study, led by Jeffrey Strawn and published in the Journal of Clinical Psychiatry, UC researchers took a first look at one particular medication for treatment of anxiety disorders in pediatric patients to see if it was beneficial.

A sound treatment
University of Utah biomedical engineering assistant professor Jan Kubanek has discovered that sound waves of high frequency (ultrasound) can be emitted into a patient's brain to alter his or her state.

A new treatment for liver cancer
In the latest issue of Molecular Therapy, Skoltech and MIT researchers have published a new combinatorial therapy for the treatment of liver cancer.

Improving the treatment of periodontitis
For the first time, researchers from Charité -- Universitätsmedizin Berlin have shown that a unicellular parasite commonly found in the mouth plays a role in both severe tissue inflammation and tissue destruction.

Excellent long-term stability of treatment gains of stepwise treatment for pediatric OCD
A study in the Journal of the American Academy of Child and Adolescent Psychiatry (JAACAP), published by Elsevier, reports that the long-term stability of treatment gains for children and adolescents diagnosed with obsessive-compulsive disorder (OCD), participating in a stepwise manualized treatment, is excellent.

When the best treatment for hypertension is to wait
A new study concluded that a physician's decision not to intensify hypertension treatment is often a contextually appropriate choice.

Is opioid treatment available to those who need it most?
The US opioid epidemic is still raging -- it's particularly pronounced in low-income areas and in those where people lack access to health care services, which includes cities in Michigan and across the Rust Belt.

Virus characteristics predict HIV treatment efficacy with antibody treatment
Current HIV-1 therapies have been proven to be highly effective in slowing the progression of the virus in the body with only minimal side effects.

Light therapy could replace opioids as main treatment for cancer treatment side effect
A worldwide coalition of researchers and clinicians has agreed that light therapy is among the most effective interventions for the prevention of oral mucositis, painful ulcers in the mouth resulting from cancer therapy.

Minimally invasive uterine fibroid treatment safer and as effective as surgical treatment
Uterine fibroid embolization (UFE) effectively treats uterine fibroids with fewer post-procedure complications compared to myomectomy, according to new research presented today at the Society of Interventional Radiology's 2019 Annual Scientific Meeting.

Read More: Treatment News and Treatment Current Events
Brightsurf.com is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to Amazon.com.