 |
|
Researchers discover molecular basis of a form of muscular dystrophy
April 30, 2008A team of French and German researchers report in the May 2008 print issue of The FASEB Journal (http://www.fasebj.org) that people with limb-girdle muscular dystrophy are missing a protein called c-FLIP, which the body uses to prevent the loss of muscle tissue. By targeting the cellular and molecular mechanisms responsible for creating this protein, scientists could develop new drugs to stop muscle wasting from limb-girdle muscular dystrophy and other conditions.
"Unfortunately, rare diseases like limb-girdle muscular dystrophy don't get the attention or funding they deserve," said Gerald Weissmann, M.D., Editor-in-Chief of The FASEB Journal. "I hope that the breakthrough described in this study-the discovery of what regulates a protein that determines which muscle tissue stays and goes in our bodies-will lead to a range of new drugs for this form of muscular dystrophy and many others."
To identify c-FLIP as a culprit in limb-girdle muscular dystrophy, the researchers used tissue from human biopsies to analyze the molecular pathways involved at each step of the disorder's progression. The researchers found that the c-FLIP protein, which is responsible for blocking the death of muscle cells, is not produced as it should in people with limb-girdle muscular dystrophy, and that the creation of the c-FLIP protein is controlled by another protein called calpain-3. According to the authors, this finding may have implications for other types of muscular dystrophy and other situations that cause the death of muscle fibers, such as long-term immobilization, denervation, aging, or cachexia.
"Limb-girdle muscular dystrophy is a rare and devastating condition that robs people of movements that the rest of us take for granted," Weissmann added. "Fortunately, this study should provide researchers with a much-needed target for developing drugs to treat at least one of these conditions."
According to the U.S. Muscular Dystrophy Association, limb-girdle muscular dystrophy is a group of disorders affecting voluntary muscles around the hips and shoulders, and it is caused by mutations in at least 15 genes responsible for making proteins needed for normal muscle function. As the disease progresses, people with limb-girdle muscular dystrophy may lose their ability to walk, get in and out of chairs, comb their hair, and feed themselves.
Federation of American Societies for Experimental Biology
"Limb-girdle muscular dystrophy is a rare and devastating condition that robs people of movements that the rest of us take for granted," Weissmann added. "Fortunately, this study should provide researchers with a much-needed target for developing drugs to treat at least one of these conditions."
According to the U.S. Muscular Dystrophy Association, limb-girdle muscular dystrophy is a group of disorders affecting voluntary muscles around the hips and shoulders, and it is caused by mutations in at least 15 genes responsible for making proteins needed for normal muscle function. As the disease progresses, people with limb-girdle muscular dystrophy may lose their ability to walk, get in and out of chairs, comb their hair, and feed themselves.
Federation of American Societies for Experimental Biology
Muscular Dystrophy News and Current Muscular Dystrophy Events RSSPTC124 shows activity in cystic fibrosis; Phase 2 proof-of-concept data published in Lancet
New phase 2 data published today in The Lancet show that the investigational oral drug PTC124 demonstrates activity in nonsense-mutation cystic fibrosis (CF). The data show that treatment with PTC124 results in statistically significant improvements in the chloride channel function of patients with nonsense-mutation CF. The study was conducted at the Hadassah Hebrew University Hospital in Jerusalem, Israel and sponsored by PTC Therapeutics (PTC).
RNA emerges from DNA's shadow
RNA, the transporter of genetic information within the cell, has emerged from the shadow of DNA to become one of the hottest research areas of molecular biology, with implications for many diseases as well as understanding of evolution.
Stanford researchers take first look at working muscle fiber
Using an unusual microscope with a tip the size of a needle, Stanford researchers are now able to look at tiny fibers of working muscles in live humans, with minimum discomfort to the patient-a development patients are sure to welcome.
Embryo biopsy does not affect early growth and risk of congenital malformations in PGD/PGS babies
A study of 70 singleton babies born after preimplantation genetic diagnosis and screening has shown that the procedure does not adversely affect their early growth and risk of congenital malformations.
New approach to protect the hearts of patients with muscular dystrophy
A team of researchers has recently shown that the administration of sildenafil protects the heart in mice with Duchenne muscular dystrophy.
Penn Researchers Identify First Sex Chromosome Gene Involved in Meiosis and Male Infertility
A team of scientists led by University of Pennsylvania veterinary researchers have identified a gene, TEX11, located on the X chromosome, which when disrupted in mice renders the males sterile and reduces female fecundity. This is the first study of the genetic causes of infertility that links a particular sex chromosome meiosis-specific gene to sterility.
Investigational drug tested for preventing muscle fiber death in muscular dystrophy
An investigational antiviral drug currently undergoing human trials in Europe for treating Hepatitis C infections may have potential to reduce muscle cell damage in Duchenne and other forms of muscular dystrophy (MD).
Long-term muscle improvements shown in gene therapy study in mice
Injecting a gene responsible for making a specific protein into a mouse that's used as a model for muscular dystrophy can lead to long-term improvements in the animal's muscle size and strength, a new study shows.
Research shows promise for potential new gene therapy strategy for muscle-wasting diseases
Investigators in The Research Institute at Nationwide Children's Hospital have identified the role of a protein that could potentially lead to new clinical treatments to combat musculoskeletal diseases, including Duchenne muscular dystrophy (DMD).
New stem cell technique improves genetic alteration
UC Irvine researchers have discovered a dramatically improved method for genetically manipulating human embryonic stem cells, making it easier for scientists to study and potentially treat thousands of disorders ranging from Huntington's disease to muscular dystrophy and diabetes.
More Muscular Dystrophy News Articles
 | Heartsongs by Mattie J. T. Stepanek Now available in hardcover, a special gift edition with 16 pages of new poems and illustrations, the national bestseller that introduced millions of people to Mattie J.T.... |
 | Journey Through Heartsongs by Mattie J. T. Stepanek Mattie J.T. Stepanek takes us on a Journey Through Heartsongs with more of his moving poems. These poems share the rare wisdom that Mattie has acquired through his struggle with a rare form of muscular dystrophy and the death of his three siblings from the same disease. His life view is one of love and generosity and as a poet and a peacemaker, his desire is to bring his message of peace to as... |
 | Reflections of a Peacemaker: A Portrait Through Heartsongs by Mattie J.T. Stepanek Mattie J. T. Stepanek lived and died a child, but he had the spirit of a giant. Affected by a rare and fatal neuromuscular disease, Mattie lived almost fourteen years but in that time became a poet, best-selling author, peace activist, and a prominent voice for the Muscular Dystrophy Association. Before his death in June 2004, his five volumes of Heartsongs poetry sold more than a million copies.... |
 | My Buddy (An Owlet Book) by Audrey Osofsky Buddy is the best dog a boy could have. He and his master are always together. They play ball, and go for walks, and take good care of each other. Nothing can separate them. They're a... |
 | Hope Through Heartsongs by Mattie J. T. Stepanek The celebrated child Mattie J.T. Stepanek continues his internationally inspiring poetry with Hope Through Heartsongs. For those who haven't followed Stepanek's rise to fame, this young phenomenon writes poetry that is wise beyond his years and has appeared on The Oprah Winfrey Show and Larry King Live. Indeed, as Gary Zukav marvels in the book's foreword, Stepanek's wisdom seems to extend beyond... |
 | Celebrate Through Heartsongs by Mattie J. T. Stepanek attie J.T. Stepanek is an award-winning poet whose struggle with a rare form of muscular dystrophy has touched the lives of people nationwide. Celebrate Through Heartsongs, his fourth inspiring collection of poetry, features works written between the ages of three and eleven, and continues to spread Mattie's message of universal hope, peace, courage, and love. Fully illustrated by the poet, the... |
 | Adrenaline by John B. Olson Set in the not-so-distant future, Adrenaline introduces James Parker, a biochemistry grad student who discovers a cure for muscular dystrophy, the disease confining him to a wheelchair. However, the cure that began as his salvation appears to have bizarre side effects that open the door to an existence he never imagined. Darcy Williams, an attractive, intelligent, and delightfully quirky fellow... |
 | Muscular Dystrophy in Children: A Guide for Families by Irwin M. Siegel This book was written for parents, families, teachers, and friends of children with muscular dystrophy (MD), and for older children. It guides the child and caregivers through the often frightening labyrinth of medical care that one enters when diagnosed with MD. The book will help the reader understand the significance of the signs and symptoms of the disease, the treatment options available,... |
 | Jamie: A Literacy Story by Diane Parker |
 | Chance of a Lifetime (Silver Blades) by Melissa Lowell Book Three in an exciting Olympic trilogy!Tori and Jill are getting the chance of a lifetime. They're going to Japan for the 1998 Winter Games--Tori as a member of the U.S. Olympic team, Jill as an alternate. They're both extremely excited.But Tori is also scared. Very scared. She has a serious muscle disease that is slowly draining her body of strength. It took every ounce of Tori's energy... |
| © 2008 BrightSurf.com |