ACTA2 mutations are responsible for disease in approximately 20% of families with thoracic aortic aneurysms and dissections(TAAD). Dr. Milewicz directs the John Ritter Research Program and her research group identified ACTA2 as a gene that causes TAAD in 2009. The Milewicz group has now published an analysis of clinical data collected from a large group of people (close to 300) who have ACTA2 mutations. This information is important in medical management of patients with ACTA2 mutations. The publication can be accessed by clicking on the article “Aortic Disease Presentation and Outcome Associated with ACTA2 Mutations” available here.
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Your generosity helps us support families with aortic disease, identify new genes and pathways that cause this condition, and develop guidelines to improve the survival of patients. This year your support helped researchers from the John Ritter Research Program publish a total of 21 papers in peer reviewed journals, listed below. Thank you for your support.
1. MFAP5 Loss‐of‐Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections. Am J Hum Genet. 2014 Dec 4;95(6):736‐43.
2. Myh11(R247C/R247C) mutations increase thoracic aorta vulnerability to intramural damage despite a general biomechanical adaptivity. J Biomech. 2014 Nov 1. pii: S0021‐9290(14)00552‐1.
3. RNF213 rare variants in an ethnically diverse population with Moyamoya disease. Stroke. 2014 Nov;45(11):3200‐7.
4. Use of genetics for personalized management of heritable thoracic aortic disease: How do we get there? J Thorac Cardiovasc Surg.2014 Aug 5. pii: S0022‐5223(14)01043‐5.
5. A roadmap to investigate the genetic basis of bicuspid aortic valve and its complications: insights from the International BAVCon (Bicuspid Aortic Valve Consortium). J Am Coll Cardiol. 2014 Aug 26;64(8):832‐9.
6. Aortic dilatation with bicuspid aortic valve. N Engl J Med. 2014 Aug 14;371(7):683.
7. Bicuspid aortic valve: identifying knowledge gaps and rising to the challenge from the International Bicuspid Aortic Valve Consortium (BAVCon). Circulation. 2014 Jun 24;129(25):2691‐704.
8. Essential Hypertension vs. Secondary Hypertension Among Children. Am J Hypertens. 2015 Jan;28(1):73‐80.
9. Cell biology. Dysfunctional mechanosensing in aneurysms. Science. 2014 May 2;344(6183):477‐9.
10. Clinical and biochemical profiles suggest fibromuscular dysplasia is a systemic disease with altered TGF‐β expression and connective tissue features. FASEB J. 2014 Aug;28(8):3313‐24.
11. Overexpression of smooth muscle myosin heavy chain leads to activation of the unfolded protein response and autophagic turnover of thick filament‐associated proteins in vascular smooth muscle cells. J Biol Chem. 2014 May 16;289(20):14075‐88.
12. Aortic Valve Operative Outcomes in Marfan Patients Study Group. Early and 1‐year outcomes of aortic root surgery in patients with Marfan syndrome: a prospective, multicenter, comparative study. J Thorac Cardiovasc Surg. 2014 Jun;147(6):1758‐66, 1767.e1‐4.
13. Molecular diagnosis in vascular Ehlers‐Danlos syndrome predicts pattern of arterial involvement and outcomes. J Vasc Surg. 2014 Jul;60(1):160‐9.
14. Vascular Ehlers‐Danlos syndrome: exploring the role of inflammation in arterial disease. Circ Cardiovasc Genet. 2014 Feb;7(1):5‐7.
15. Surgical treatment of bicuspid aortic valve disease: knowledge gaps and research perspectives. J Thorac Cardiovasc Surg. 2014 Jun;147(6):1749‐57, 1757.e1.
16. Abnormal muscle mechanosignaling triggers cardiomyopathy in mice with Marfan syndrome. J Clin Invest. 2014 Mar 3;124(3):1329‐39.
17. Advanced atherosclerosis is associated with increased medial degeneration in sporadic ascending aortic aneurysms. Atherosclerosis. 2014 Feb;232(2):361‐8.
18. IL‐6 regulates extracellular matrix remodeling associated with aortic dilation in a fibrillin‐1 hypomorphic mgR/mgR mouse model of severe Marfan syndrome. J Am Heart Assoc. 2014 Jan 21;3(1):e000476.
19. Acute aortic dissections with pregnancy in women with ACTA2 mutations. Am J Med Genet A. 2014 Jan;164A(1):106‐12.
20. Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections. Trends Cardiovasc Med. 2014 Feb;24(2):53‐60.
21. Single‐nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome. Genet Med. 2014 Jan;16(1):53‐9.
Survivors of Aortic Dissection Support Group Meetings Scheduled in Ridgewood, New Jersey in October and December 2013
It can be difficult to find others to talk to who understand what an aortic dissection survivor has been through. The John Ritter Research program is pleased to pass along information about future group meetings that a Nurse Practitioner has organized in New Jersey. (more…)
HOUSTON – (Aug. 7, 2013) – A multi-institutional team led by Dianna Milewicz, M.D., Ph.D., of The University of Texas Health Science Center at Houston (UTHealth) has found a recurrent genetic mutation that has been linked to deadly thoracic aortic dissections in family members as young as 17 years of age.
The gene known as PRKG1 makes a protein called cGMP-dependent kinase, type I. The PRKG1 mutation alters the function of the protein and causes the muscle cells in the wall of the aorta to respond incorrectly to pulsatile blood flow from the heart, and the change in this one protein ultimately causes thoracic aortic aneurysm and acute aortic dissection. The mutation was identified in four families, including three in the United States. The majority of the affected family members suffered acute aortic dissections at young ages (17 to 51 years). (more…)
The John Ritter Foundation for Aortic Health is excited to announce an online gallery of original artwork created by John Ritter’s family and friends: http://fromtheheartgallery.com/home.html. Amy Yasbeck’s sister, Ann Reece, is one of the featured artists.
Twenty percent of the sale proceeds will go to the John Ritter Foundation to support education on aortic disease and research on the genetic basis of thoracic aortic aneurysms and dissections.
If you would like to be considered as a featured artist, please contact the gallery through its website: http://fromtheheartgallery.com/contact.html.
The John Ritter Foundation is a collaborative partner of the John Ritter Research Program in Aortic and Vascular Diseases. We thank the Foundation for providing financial support for our research on the genetic basis of thoracic aortic aneurysms and dissections.
Dianna M. Milewicz, MD, PhD, Director of the John Ritter Research Program in Aortic and Vascular Diseases and holder of the President George H.W. Bush Chair of Cardiovascular Medicine at the University of Texas Health Science Center at Houston, will be honored on Wednesday, November 14, 2012 by BioHouston at its Fourth Annual Lunch Celebrating Women in Science.
To be held at the River Oaks Country Club in Houston, TX, the luncheon also will honor Dr. Lydia Kavraki, Rice University; Dr. Renu Khator, University of Houston; and Sara Ortwein, ExxonMobil Upstream Research Company.
The four will be celebrated for demonstrating “extraordinary leadership in science and technology.”
The mission of BioHouston is to “create an environment that will stimulate technology transfer and research commercialization, thereby generating economic wealth for the Houston region and making it a global competitor in life science commercialization.”
Registration deadline is Friday, November 9 at 3:00 p.m. Central time.
Congratulations, Dr. Milewicz!
The second annual Sofia Gutierrez Brain Aneurysm Awareness Fund Raiser Event will be held from 11 a.m. – 8 p.m. on Saturday, November 10, at the Orange Park Mall in Orange Park, Florida (20 miles south of Jacksonville). Here is the very touching story of the Gutierrez family’s motivation to find answers about cerebral aneurysms: Family warns parents about condition that killed daughter.
The event will benefit the John Ritter Foundation for Aortic Health, and all funds raised will go to the Sofia Alejandra Gutierrez Brain Aneurysm Research Fund to support research the John Ritter Research Program in Aortic and Vascular Diseases (JRRP) at the University of Texas Health Science Center at Houston (UTHealth) is doing on the genetics of cerebral aneurysms. The Director of the JRRP, Dianna M. Milewicz, MD, PhD, will attend and be available to answer questions about the genetics of cerebral and other vascular aneurysms.
The event will feature the Clay County Fire Department, Shands Hospital Trauma One Helicopter, bounce houses, live entertainment, silent auction, door prizes, vendors, and much more.
If you’re in the Orange Park area and looking for something fun for the family to do, come on out!
Team Ritter to Run the 2012 ING New York City Marathon to Increase Awareness of Aortic Disease and Raise Funds for Research
Actor Tyler Ritter; Watkins Little, the “Ridiculously Photogenic Guy;” thoracic aortic disease survivors and an aortic surgeon will be among the 15 Team Ritter runners dedicated to raising money for the John Ritter Foundation for Aortic Health (JRF) at the ING New York City Marathon on Nov. 4, 2012.
Funds from the NYC Marathon raised for the JRF will go to the John Ritter Research Program in Aortic and Vascular Diseases (JRRP) at The University of Texas Health Science Center at Houston (UTHealth) to support research to identify genetic risks for aortic dissections. To donate, visit Edward Norton’s Crowdrise online fundraising community: http://www.crowdrise.com/TeamRitterNYCMarathon2012/fundraiser/johnritterfoundation.
Read the press release here: http://www.uthouston.edu/media/story.htm?id=6dae1471-9736-49a6-bd12-d51bdb74c517
Meet the runners of Team Ritter: (more…)
Thanks to a cousin’s warning that thoracic aortic disease ran in their family, Houstonian Pat Arthur discovered that he carried a genetic defect that could cause his aorta to dissect and rupture with little or no warning. He also learned that this particular defect resulted in an aggressive form of the disease and the growing aneurysm spotted with a scan needed to be surgically corrected sooner than later.
It was life-saving information.
Now a new clinic devoted to integrated care for aortic disease is able to merge personalized genetic information with clinical care at The University of Texas Health Science Center at Houston (UTHealth). (more…)
Gene Defect for New Syndrome Discovered – Systemic Complications Include Life-threatening Thoracic Aortic Disease
HOUSTON – (July 9, 2012) – Research teams from The University of Texas Health Science Center at Houston (UTHealth) and Paris, France have discovered a gene defect linked to a cluster of systemic complications, including life-threatening thoracic aortic disease and intracranial aneurysms. The new syndrome is similar, but distinct from known syndromes such as Marfan and Loeys-Dietz syndrome. (more…)