Navigation Links
CNIC researchers find a possible treatment for one of the main symptoms of premature aging disease
Date:6/17/2013

HGPS is a rare genetic disease that affects one in every 4-8 million births. The disease is caused by a spontaneous mutation in one of the two copies (alleles) of the gene LMNA, which codes for lamin A, a protein important for the integrity and function of the envelope surrounding the cell nucleus. The mutation causes incorrect processing of the messenger RNA for lamin proteins, resulting in the synthesis of an anomalous protein, called progerin.

The new study, published in the leading cardiovascular research journal Circulation, identifies a possible treatment to block the deposition of calcium in arterial wall. This calcification greatly increases the risk of cardiovascular disease, and most progeria patients die of a heart attack or stroke at an average age of just 13 years.

The researchers, led by Dr. Vicente Andrs, director of the Molecular and Genetic Cardiovascular Pathophysiology group at the CNIC, describe the mechanisms that cause vascular calcification in a mouse model of HGPS that recapitulates the main symptoms of the human disease. The study was conducted in close collaboration with the team at the Universidad de Oviedo led by world-leading progeria expert Dr. Carlos Lpez-Otn.

The authors show that the aortas and blood of 'progeric' mice accumulate smaller quantities than healthy mice of extracellular pyrophosphate, a potent inhibitor of vascular calcification. This is due to two main reasons. First, due to a defect in their mitochondria, these mice produce lower amounts of the source of pyrophosphate, ATP. Second, the progeric mice have a higher than normal activity of alkaline phosphatase, the enzyme responsible for degrading pyrophosphate.

Dr. Andrs' team has demonstrated that chronic treatment with pyrophosphate inhibits the deposition of calcium in the arteries of mice with the disease.

The next step toward translating this finding to humans will be to confirm that the same mechanism also exists in children with HGPS, that is, to demonstrate that the blood and arteries of these children also have low levels of pyrophosphate. According to Dr. Andrs, if this is the case "it would be possible to test whether bisphosphonates, chemical analogues of pyrophosphate, achieve the same therapeutic effect in these children".

The study received the prize for the best basic research poster at the 7th International Scientific Workshop on progeria, held earlier this year in Washington D.C. by the Progeria Research Foundation.

Dr. Ricardo Villa-Bellosta, first author on the article, explained that "these findings mark a step on the way toward preventing vascular calcification in children with HGPS". The changes detected by the CNIC researchers might also contribute to bone calcification and joint rigidity, two other symptoms seen in HGPS patients, who are characterized by their distinctive physical appearance associated with premature aging.

Recent studies have shown that small quantities of progerin accumulate during normal aging. This might be linked to the shortening of telomeres that occurs during physiological aging, and that is accelerated in HGPS. As indicated by Dr. Andrs "These studies suggest that progeria and normal aging share mechanisms. Although the quantities of progerin produced in the absence of the LMNA mutation are small, the noxious effects of this protein can contribute to the deterioration of the cardiovascular system during normal aging".

The article in Circulation is featured in an editorial written by Harvard professor Jane A. Leopold, who comments that it may be possible to extrapolate the results of this study to the process of vascular calcification in the population at large. Dr. Leopold also points out that, while aging is inevitable, this study and others demonstrate that vascular calcification can be prevented.


'/>"/>

Contact: AInhoa Iriberri
airiberri@cnic.es
34-610-295-556
Centro Nacional de Investigaciones Cardiovasculares
Source:Eurekalert

Related medicine news :

1. Researchers explode the myth about running injuries
2. Mount Sinai Researchers Succeed in Programming Blood Forming Stem Cells
3. Researchers find low level of patient involvement in medical decision-making in Peru
4. Yale researchers unravel genetics of dyslexia and language impairment
5. Mount Sinai researchers succeed in programming blood forming stem cells
6. Researchers gain new molecular-level understanding of the brains recovery after stroke
7. Researchers identify a new mechanism of TB drug resistance
8. Mount Sinai researchers provide 1st prospective characterization of a genetic subtype of autism
9. Obesity can be predicted from infancy, CWRU researchers find
10. Quality-of-life issues need to be addressed for CML patients, Moffitt researchers say
11. With new $1.7 million grant, U-M, Johns Hopkins researchers will develop dementia treatment tool
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:10/13/2017)... N.J. (PRWEB) , ... October 13, 2017 , ... The ... Holly Day Market. Featuring a collection of specialty vendors and unique items from across ... personalized and quality-focused health and wellness services offered by the VNA. The boutique ...
(Date:10/13/2017)... ... October 13, 2017 , ... Global Healthcare Management’s 4th Annual Kids Fun ... NJ. This free event, sponsored by Global Healthcare Management’s CEO, Jon Letko, is ... is geared towards children of all ages; it is a non-competitive, non-timed event, which ...
(Date:10/13/2017)... ... 2017 , ... Talented host, actor Rob Lowe, is introducing ... new episode of "Success Files," which is an award-winning educational program broadcasted on ... subject in-depth with passion and integrity. , Sciatica occurs when the sciatic nerve ...
(Date:10/13/2017)... ... October 13, 2017 , ... “The Journey: From the Mountains ... possible to save lost souls in the Philippines. “The Journey: From the Mountains to ... dedicated teacher of the Bible. She has taught all ages and currently teaches a ...
(Date:10/12/2017)... ... October 12, 2017 , ... ... healthcare compliance program management, will showcase a range of technology and learning solutions ... Living (NCAL) Convention and Expo to be held October 14–18, 2017 at the ...
Breaking Medicine News(10 mins):
(Date:10/11/2017)... Oct. 11, 2017  Hill-Rom Holdings, Inc. ("Hill-Rom") (NYSE: ... facility in Las Piedras, Puerto Rico ... blades. Following ... facility sustained minor structural damage, temporary loss of power ... have been completed, manufacturing operations have resumed, and the ...
(Date:10/10/2017)... , Oct. 10, 2017   West Pharmaceutical ... innovative solutions for injectable drug administration, today shared the ... ID Adapter for improving the intradermal administration of polio ... Skin Vaccination Summit in May 2017 by Dr. ... Polio Department, World Health Organization (WHO), and recently published ...
(Date:10/5/2017)... 5, 2017  In response to the nationwide ... Maxillofacial Surgeons (AAOMS) released prescribing recommendations that urge ... used as a first-line therapy to manage a ... Recognizing the value and importance ... "Opioid Prescribing: Acute and Postoperative Pain Management" stresses ...
Breaking Medicine Technology: