Bay Biosciences provides high-quality, fresh frozen, skeletal muscle biopsy samples with matched fresh frozen sera (serum), plasma, bio-fluids from unique Duchenne muscular dystrophy (DMD) patients for research.
The sera (serum) and plasma bio-fluid specimens are processed from Duchenne muscular dystrophy (DMD) patients donors peripheral whole-blood using customized collection and processing protocols.
Duchenne Muscular Dystrophy (DMD) Overview
Duchenne muscular dystrophy (DMD) is a severe genetic condition characterized by progressive muscle weakening. People with DMD typically only live into their 20s, but life expectancy has been increasing over time.
Muscular dystrophy is a group of genetic conditions that cause you to lose muscle mass and strength over time. There are nine types of muscular dystrophy.
Duchenne muscular dystrophy (DMD) is the most common type of muscular dystrophy. It’s also one of the most severe, worsening more rapidly than other types.
Recent research estimates that DMD affects 48 out of every 1 million people worldwide. But rates may be higher in Europe and North America, according to the Muscular Dystrophy Association.
The symptoms of DMD begin in early childhood. Those with DMD usually die in early adulthood.
Symptoms of Duchenne Muscular Dystrophy (DMD)
Generally the symptoms of DMD start to appear between ages 2 and 6. Many children with DMD develop regularly during infancy and early childhood.
DMD symptoms may include:
- A loss of ability to walk
- Difficulty walking
- Enlarged calves
- Fatigue
- Learning disabilities, which occur in about one-third of affected people
- Rapidly worsening weakness in the legs, pelvis, arms, and neck
- Lack of motor skills development
Causes of Duchenne Muscular Dystrophy (DMD)
DMD is a genetic disease. Those who inherit it have a mutation in the gene related to a muscular protein called dystrophin.
Dystrophin keeps muscle cells intact. Its absence causes rapid muscular deterioration as a child with DMD grows.
Inheritance of Duchenne Muscular Dystrophy (DMD)
Humans typically have 46 chromosomes. We get 23 from each biological parent, including 1 sex chromosome, an X chromosome from our biological mother and either an X or Y chromosome from our biological father.
The gene for DMD is on the X chromosome.
People assigned male at birth typically have an X chromosome from their mother and a Y chromosome from their father. If they acquire an X chromosome with a mutated copy of the dystrophin gene, they do not have a second copy of that gene to help produce the protein. This causes them to inherit the disease.
Individuals assigned female at birth typically have two X chromosomes, one from each parent. If they acquire only one X chromosome with a mutated copy of the gene, they are likely to have a second unaffected copy. This is why DMD is much rarer in people assigned female at birth.
But even if they are unaffected by the disease, they can still carry the gene and pass it on the next generation.
Risk of Duchenne Muscular Dystrophy (DMD)
A family history of DMD is a risk factor, but the condition may pass down without a known family history. A person can be a silent carrier of the condition. This means that a family member can carry a copy of the defective gene, but it doesn’t cause DMD in that person.
Sometimes, the gene can pass down for generations before affecting a child.
People assigned male at birth are more likely to have DMD than those assigned female at birth. The National Organization for Rare Diseases estimates it affects 1 out of every 3,500 male births.
In contrast, DMD affects about 1 in 50 million female births.
Treatment of of Duchenne Muscular Dystrophy (DMD)
There’s no cure for DMD. Treatment can only make symptoms less severe and extend life expectancy.
Corticosteroids like prednisone and deflazacort can help prolong stability and independent movement. If bone health is poor, a doctor may also prescribe bisphosphonates.
Children with DMD often lose the ability to walk and require a wheelchair by about age 12. Leg bracing may extend the amount of time a child can walk independently. Regular physical therapy keeps the muscles in the best possible condition. Steroid treatments may also prolong muscle function.
Weakening muscles can cause conditions such as pneumonia scoliosis, and abnormal heart rate. A doctor should treat and monitor conditions as they occur.
Lung function begins to deteriorate in the late stages of the disease. A ventilator may be necessary to prolong life.
Outlook
DMD is a fatal condition. According to 2022 research, the median life expectancy for people with DMD is 23.7 years. However, with diligent care, some people with DMD survive into their 40s.
But advances in medical technology are improving the outlook for people with DMD. A 2021 study found that the median life expectancy has been rising steadily, from 18.3 years in people born before 1970 to 28.1 years in people born after 1990.
The condition is degenerative, which means the need for medical care increases as the condition worsens.
As symptoms begin to appear between ages 2 and 6, the child will usually need regular monitoring by a medical team.
In the later stages of the disease, most people with DMD will need full-time care to maintain quality of life.
As the final stages of the disease emerge during the teen and young adult years, the person may need to enter the hospital or receive hospice care.
Frequently Asked Questions (FAQs)
Can I prevent Duchenne muscular dystrophy?
You can’t prevent DMD before conception because it passes down through your genes. Geneticists are researching technology that may be able to prevent the mutated gene from being passed on, but they haven’t discovered a successful cure.
Genetic testing before conception can determine whether a couple has an increased risk of having children with DMD.
How do I know if I’m a carrier for Duchenne muscular dystrophy?
If you have a family history of DMD, you might be interested in knowing if you are a silent carrier. Genetic testing is the best way to know for sure if you’re a silent carrier for the gene that causes DMD.
Are there any emerging treatments for Duchenne muscular dystrophy?
Researchers are looking into several new DMD treatment strategies, but progress has proven challenging. Some medications intended to manage symptoms showed promise in early clinical phase trials but weren’t as effective in later trials.
Some researchers have proposed gene therapy as a potential cure, but attempts so far have been unsuccessful because of the size of the gene. Scientists are also looking into stem-cell transplant.
Takeaway
DMD is the most common and severe type of muscular dystrophy. Symptoms usually present in early childhood, with median life expectancy in the 20s.
DMD is an X-linked genetic disease, which means it affects mostly people assigned male at birth. They usually inherit it from a biological mother who is a silent carrier.
Medical advances have increased life expectancy for people with DMD over the last few decades. Scientists hope that emerging therapies may increase it further.
Bay Biosciences is a global leader in providing researchers with high-quality, clinical grade, fully characterized human tissue samples, biospecimens, and human biofluid collections.
Samples available include cancer (tumor) tissue, cancer serum, cancer plasma, cancer, peripheral blood mononuclear cells (PBMC). and human tissue samples from various other therapeutic areas and diseases.
In addition, Bay Biosciences maintains and manages its own bio-repository. The human tissue bank (biobank) consisting of thousands of diseased samples (specimens) and from normal healthy donors available in all formats and types.
Moreover, our biobank procures and stores fully consented, de-identified human biospecimens collected under institutional review board (IRB) approved protocols.
Furthermore, all our specimen collections, human tissue samples, and human biofluids are provided with detailed annotations, including associated patients’s clinical data accordingly.
Accordingly, this critical patient’s clinical data includes information relating to their past and current disease, treatment history, lifestyle choices, biomarkers, and genetic information.
Equally important, sample-associated patient’s data is extremely valuable for researchers and is also subsequently used to help identify new effective treatments (drug discovery and development) in oncology and other therapeutic areas and diseases.
Bay Biosciences banks wide variety of human tissue samples and biological samples cryogenically preserved at – 80°C.
In addition, Bay Biosciences has strong capabilities in collecting and providing human tissue samples according to the researcher’s specified requirements and customized, tailor-made collection protocols.
Please contact us anytime to discuss your special research projects and customized human tissue sample requirements.
Types of Biospecimens
Above all, Bay Biosciences provides human tissue samples (human specimens) from diseased and normal healthy donors which includes:
- Peripheral whole-blood
- Amniotic fluid
- Bronchoalveolar lavage fluid (BAL)
- Sputum
- Pleural effusion
- Cerebrospinal fluid (CSF)
- Serum (sera)
- Plasma
- Peripheral blood mononuclear cells (PBMC)
- Saliva
- Buffy coat
- Urine
- Stool samples
- Aqueous humor
- Vitreous humor
- Kidney stones (renal calculi)
- Other bodily fluids from most diseases including cancer.
Notably, we can also procure most human biospecimen types, special sample collections, and requests for human samples that are difficult to find.
In addition to the standard processing protocols, Bay Biosciences can also provide human plasma, serum, and PBMC bio-fluid samples using custom processing protocols; you buy donor-specific collections in higher volumes and specified sample aliquots from us.
Finally, Bay Biosciences also provides human samples from normal healthy donors; volunteers, for controls and clinical research, contact us Now.
- 日本のお客様は、ベイバイオサイエンスジャパンBay Biosciences Japanまたはhttp://baybiosciences-jp.com/contact/までご連絡ください。