Public release date: 15-Feb-2012
[ | E-mail | Share ]
Contact: Marjorie Montemayor-Quellenberg
mmontemayor-quellenberg@partners.org
617-534-2208
Brigham and Women's Hospital
BOSTON, MA?Mutations in TTN?the largest gene in the human genome?cause idiopathic (unknown cause) dilated cardiomyopathy (DCM), a common form of heart failure, according to a study by Brigham and Women's Hospital (BWH) researchers. The TTN gene encodes a protein that functions as a scaffold for assembly of contractile proteins in muscle cells and also regulates the production of force in cardiac muscle cells.
Because of its enormous size, the TTN gene was, until recently, too difficult to sequence and analyze in large numbers of patients. But with the development of next-generation sequencing technologies, the time was ripe to tackle TTN. Christine Seidman, MD, BWH Cardiovascular Genetics Center director and a team of dedicated scientists at Harvard Medical School; Imperial College, London; University of Colorado; and physicians at BWH took on the challenge to comb through the gigantic gene. Their study unveils how mutated TTN genes can lead to structural deformations in heart muscle fibers, which may then lead to heart muscle disease. The study will be published in the February 16, 2012 issue of The New England Journal of Medicine.
Researchers analyzed genetic samples from 312 people diagnosed with DCM, 231 with another heart muscle disease called hypertrophic cardiomyopathy (HCM), and 249 people without heart disease. They identified 72 mutations in the TTN gene that foreshorten the encoded protein. These shortened titin proteins lack regions involved in regulating force production in heart cells. Many more mutations were found in those with DCM compared to healthy individuals and those with HCM, indicating that TTN gene mutation causes DCM, but rarely causes HCM.
Moreover, the study notes that outcomes of patients with DCM were similar regardless of whether or not a person has a TTN gene mutation. However, among those that did have TTN mutations, adverse events such as cardiac transplantation, implantation of a ventricular assist device, or death occurred earlier in men than women. Seidman believes that the study findings will help improve future diagnosis and treatment of heart diseases.
"Early diagnosis of any disease, including DCM, can allow interventions that may prevent some of the devastating outcomes, such as sudden cardiac death from an arrhythmia or development of heart failure," said Seidman. "By knowing that TTN mutations account for a substantial amount of idiopathic DCM, we now will have the opportunity for early diagnosis in lots of at-risk individuals, and any person who has a family member with idiopathic DCM."
###
This research was supported by funding from Howard Hughes Medical Institute; National Institutes of Health Leducq Foundation; American Heart Association and Muscular Dystrophy Association; UK National Institute for Health Research Cardiovascular Biomedical Research Unit (Royal Brompton and Harefield NHS Foundation Trust & Imperial College), The British Heart Foundation and the MRC UK; and J. Ira and Nicki Harris Family Research Award.
Brigham and Women's Hospital (BWH) is a 793-bed nonprofit teaching affiliate of Harvard Medical School and a founding member of Partners HealthCare, an integrated health care delivery network. BWH is the home of the Carl J. and Ruth Shapiro Cardiovascular Center, the most advanced center of its kind. BWH is committed to excellence in patient care with expertise in virtually every specialty of medicine and surgery. The BWH medical preeminence dates back to 1832, and today that rich history in clinical care is coupled with its national leadership in quality improvement and patient safety initiatives and its dedication to educating and training the next generation of health care professionals. Through investigation and discovery conducted at its Biomedical Research Institute (BRI), http://www.brighamandwomens.org/research, BWH is an international leader in basic, clinical and translational research on human diseases, involving more than 900 physician-investigators and renowned biomedical scientists and faculty supported by more than $537 M in funding. BWH is also home to major landmark epidemiologic population studies, including the Nurses' and Physicians' Health Studies and the Women's Health Initiative. For more information about BWH, please visit http://www.brighamandwomens.org.
[ | E-mail | Share ]
AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert! system.
Here is the original post:
Mutations in gigantic gene responsible for common heart muscle disease
- Gene Therapy for Genetic Disease: The Long and Winding Road [Last Updated On: August 17th, 2024] [Originally Added On: October 10th, 2011]
- Gene Doping: Super Athletes in 2008 Beijing Olympics - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 14th, 2011]
- The 3 Rs of DNA: Molecules to Medicine - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 15th, 2011]
- BIT 3.1 Entrez Gene - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 15th, 2011]
- Professor Ian Everall - Gene expression in schizophrenia - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 16th, 2011]
- Gene Therapy Promising Treatment (Part 2 of 4) - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 16th, 2011]
- Cancer Research @ NC State's Centennial Biomedical Campus - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 16th, 2011]
- Gene Therapy Promising Treatment (Part 1 of 1) - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 19th, 2011]
- HiTech_U3L3_Biotech in Medicine - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 19th, 2011]
- Sri Sathya Sai Medical Camps Worldwide - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 20th, 2011]
- Dr. Joseph M. DeSimone: 2008 Winner, $500000 Lemelson-MIT Prize - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 21st, 2011]
- Non-Hodgkin's Lymphoma Cancer Survivor Testimony - (Sanoviv Medical Institute) - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 22nd, 2011]
- Vaccines: Medicine for the Healthy - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 24th, 2011]
- For Your Health - Health Care Informatics - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 24th, 2011]
- A Century of Stem Cells - Johns Hopkins Medicine - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 24th, 2011]
- Functional Repair of Human Donor Lung by IL-10 Gene Therapy (EX VIVO Lung) - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 25th, 2011]
- Science Talk: Vaccine Made With Synthetic Gene Protects Against Deadly Pneumonia - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 25th, 2011]
- Health Matters: Family Medicine - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 26th, 2011]
- Dr. Jeffrey Myers Explains Genetic Variations in Head and Neck Cancer - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 27th, 2011]
- The Emerging Network of Data for Understanding the Interactions of Genes and Drugs - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 27th, 2011]
- Burzynski_ Cancer Is Serious Business Part 4/8. wmv - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 27th, 2011]
- Pt2: Do you understand the new genetics? Maybe you don't have that gene! - Andrew Shelling - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 27th, 2011]
- Alien Genetic Takeover of Humanity! - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 27th, 2011]
- Burzynski | 2-DVD Set Extended Edition Montage Preview of New Material | Cancer Is Serious Business - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 27th, 2011]
- Genes, Genomes and the Future of Medicine - Richard Lifton, MD, Ph.D. - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 27th, 2011]
- Burzynski The Movie ~ Cancer Is Serious Business ~ High Quality - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 27th, 2011]
- Designing Life for Mars Colonization (Brainstorm Ep20) - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 27th, 2011]
- Dedication Event: Santa Monica UCLA Medical Center [Last Updated On: August 17th, 2024] [Originally Added On: October 27th, 2011]
- DR. Burzynski The Movie - Cancer Is Serious Business (PT.1) - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 27th, 2011]
- burzy - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 28th, 2011]
- Alien Genetic Takeover: The End of Humanity - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 28th, 2011]
- Burzynski_ Cancer Is Serious Business Part 1/8 .wmv - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 28th, 2011]
- Mike Schmidt - ECMO Patient - Penn State Hershey Medical Center - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 28th, 2011]
- Disrupting the HIV Virus (Brainstorm Ep24) - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 28th, 2011]
- Diagnosis and Treatment of Hepatorenal Syndrome - Moving Targets? - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 28th, 2011]
- Big Bucks, Big Pharma: Marketing Disease and Pushing Drugs - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 28th, 2011]
- Roles of RNA in Gene Regulation - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 28th, 2011]
- Diatom PCR Colony Screen - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 28th, 2011]
- Kleanthis G. Xanthopoulos, Ph.D., CEO, Regulus, talking on the impact of microRNA medicines - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 28th, 2011]
- Burzynski_ Cancer Is Serious Business Part 2/8 .wmv - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 28th, 2011]
- Sickle Cell Anemia: Stem Cell Gene Therapy - A Patient's Perspective - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 29th, 2011]
- Gene-based lung cancer treatment video - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 29th, 2011]
- HIV Resistant Genes...Rhesus Negative, Excess PK [Last Updated On: August 17th, 2024] [Originally Added On: October 29th, 2011]
- Futures in Biotech 83: Bioinformatics: Essential Gene names Skewed in a Network of Blame - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 29th, 2011]
- Keeping Blood Young, Fighting Sickle Cells (Brainstorm Ep28 - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 31st, 2011]
- News@Northwestern - NUGENE - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 31st, 2011]
- UK Medical Student Mary Burchett's Research is Personal - Video [Last Updated On: August 17th, 2024] [Originally Added On: October 31st, 2011]
- Cannabis 4 Crohn's: 2 Years As Medical Marijuana Patient, Dr Mind Bender [Last Updated On: August 17th, 2024] [Originally Added On: November 8th, 2011]
- Medical Haptical Robot for the Eye - Eye-Rhas, - TU Eindhoven - Video [Last Updated On: August 17th, 2024] [Originally Added On: November 8th, 2011]
- The Ghost in Your Genes - Horizon - BBC - Video [Last Updated On: August 17th, 2024] [Originally Added On: November 9th, 2011]
- The Ghost in Your Genes - BBC Horizon - Video [Last Updated On: August 17th, 2024] [Originally Added On: November 13th, 2011]
- Burzynski: Cancer Is Serious Business (Trailer) - Video [Last Updated On: August 17th, 2024] [Originally Added On: November 16th, 2011]
- Genes, Ancestry, and Personalized Medicine with Dr. Michael Kane - Interview Part 1.mp4 - Video [Last Updated On: August 17th, 2024] [Originally Added On: November 25th, 2011]
- The Suicide Gene - Video [Last Updated On: August 17th, 2024] [Originally Added On: November 29th, 2011]
- Ard Louis on Dawkins and Selfish Genes - Video [Last Updated On: August 17th, 2024] [Originally Added On: November 30th, 2011]
- TEDxLex - Dr. Alicia L. Bertone - Gene Jockeying for a Win in Regenerative Medicine.mp4 - Video [Last Updated On: August 17th, 2024] [Originally Added On: December 3rd, 2011]
- Introduction to Gene Network - Video [Last Updated On: August 17th, 2024] [Originally Added On: December 7th, 2011]
- The demise of a dogma. The deaf somatic gene listens - Video [Last Updated On: August 17th, 2024] [Originally Added On: December 7th, 2011]
- Future of health care, hospitals, medicine and wellbeing - by Dr Patrick Dixon - Video [Last Updated On: August 17th, 2024] [Originally Added On: December 8th, 2011]
- Electro-Medicine : Biological Physics : Neurological Research Advancements - Video [Last Updated On: August 17th, 2024] [Originally Added On: December 12th, 2011]
- Haemophilia gene therapy breakthrough - Video [Last Updated On: August 17th, 2024] [Originally Added On: December 15th, 2011]
- Duke researchers: Gene discovery explains how fruit flies retreat from heat - Video [Last Updated On: August 17th, 2024] [Originally Added On: December 16th, 2011]
- Focus on Nikolaus Rajewsky - Video [Last Updated On: August 17th, 2024] [Originally Added On: December 18th, 2011]
- Deadly Monopolies Medical Ethicist Harriet Washington on How Firms are Taking Over Life Itself - Video [Last Updated On: August 17th, 2024] [Originally Added On: December 23rd, 2011]
- Open fetal surgery: past, present and future - Video [Last Updated On: August 17th, 2024] [Originally Added On: December 23rd, 2011]
- The Human Genome and Individualized Medicine - David Valle, MD - Video [Last Updated On: August 17th, 2024] [Originally Added On: January 14th, 2012]
- Environmental Contributors to Autism Spectrum Disorders - Video [Last Updated On: August 17th, 2024] [Originally Added On: January 20th, 2012]
- When Cancer Runs in the Family - Video [Last Updated On: August 17th, 2024] [Originally Added On: January 20th, 2012]
- Genome Enabled Electronic Medical Record (GenE EMR) - William Knaus - Video [Last Updated On: August 17th, 2024] [Originally Added On: January 22nd, 2012]
- Nuvigil withdrawal - Video [Last Updated On: August 17th, 2024] [Originally Added On: January 23rd, 2012]
- Cancer Cure Documentary - Dr. Burzynski Antineoplaston Therapy - Video [Last Updated On: August 17th, 2024] [Originally Added On: January 26th, 2012]
- Next Generation Cancer Gene Sequencing for Clinically Actionable Mutations - Video [Last Updated On: August 17th, 2024] [Originally Added On: January 26th, 2012]
- Fibrocell Science, Inc. Announces Recognition for LAVIV™ (azficel-T) at The 2012 Cell & Gene Therapy Forum, Washington ... [Last Updated On: August 17th, 2024] [Originally Added On: January 31st, 2012]
- Gene Mutation Linked to Inappropriate Lipid Buildup in Liver [Last Updated On: August 17th, 2024] [Originally Added On: February 1st, 2012]
- 'Goldilocks' gene could determine best treatment for tuberculosis patients [Last Updated On: August 17th, 2024] [Originally Added On: February 3rd, 2012]
- James Wilson, MD, Ph.D., on Gene Therapy as a Disruptive Technology - Video [Last Updated On: August 17th, 2024] [Originally Added On: February 3rd, 2012]
- 'Goldilocks' gene used to find drug treatment that is 'just right' for TB patients [Last Updated On: August 17th, 2024] [Originally Added On: February 4th, 2012]
- Gene therapy, a totally Italian success - Video [Last Updated On: August 17th, 2024] [Originally Added On: February 4th, 2012]
- Electro-Medicine : Neurons function revealed - Video [Last Updated On: August 17th, 2024] [Originally Added On: February 4th, 2012]
- Gene mutation discovery sparks hope for effective endometriosis screening [Last Updated On: August 17th, 2024] [Originally Added On: February 7th, 2012]