Myotonic Dystrophy Type-1 (DM1) Samples

Bay Biosciences provides high quality, clinical grade, cryogenically preserved myotonic dystrophy Type-1 (DM1) biopsy tissue samples with matched FFPE’s,  K2EDTA plasma, sera (serum) and peripheral blood mononuclear cells (PBMC), bio-fluid samples from myotonic Dystrophy Type-1 (DM1) Samples patients.

The K2EDTA plasma, sera (serum) and PBMC bio-fluid specimens are processed from myotonic muscular dystrophy DM1 patient’s peripheral whole-blood using customized collection and processing protocols.

Myotonic Dystrophy Type-1 (DM1) Overview

Myotonic dystrophy (DM) is an inherited multi-system condition that mainly causes progressive muscle loss, weakness and myotonia. However, it can also affect other parts of your body, including your heart, lungs and eyes. In fact, there’s no cure for DM, but certain treatments and therapies can help manage symptoms and improve quality of life.

Also, DM is a form of muscular dystrophy that affects muscles and many other organs in the body. In fact, the word “myotonic” is the adjectival form of the word “myotonia,” defined as an inability to relax muscles at will.

Moreover, the term “muscular dystrophy” means progressive muscle degeneration, with weakness and shrinkage of the muscle tissue.

Hence, myotonic dystrophy often is abbreviated as “DM” in reference to its Greek name, dystrophia myotonica. Besides, another name used occasionally for this disorder is Steinert disease, after the German doctor who originally described the disorder in 1909.

Although, DM is a complex, inherited condition that mainly causes progressive muscle atrophy and weakness. Therefore, patients with the condition often have prolonged muscle contractions (myotonia) and can’t relax certain muscles after using them.

Types of Myotonic Dystrophy

Myotonic muscular dystrophy is divided into the following two types:

  • DM1 or Type-1 DM, develops when a gene on chromosome 19 called DMPK contains an abnormally expanded section located close to the regulation region of another gene, SIX5.
  • DM2 or Type-2 DM T, recognized in 1994 as a milder version of DM1, is caused by an abnormally expanded section in a gene on chromosome 3 called ZNF9.

Hence, the expanded sections of DNA in these two genes appear to have many complex effects on various cellular processes. Also, in both DM1 and DM2, the repeat expansion is transcribed into RNA but remains untranslated in protein.

Therefore, this form of muscular dystrophy causes myotonia, which is an inability to relax your muscles after they contract. Myotonic dystrophy is also called Steinert’s disease.

Further, patients with other types of muscular dystrophy don’t experience myotonia, but it’s a symptom of other muscle diseases.

Affects of Myotonic Dystrophy Type-1 (DM1)

Myotonic dystrophy can affect your:

Common Symptoms

Symptoms most often appear first in the face and neck. They include:

However, this dystrophy type may also cause erectile dysfunction and testicular atrophy. In others, it may cause irregular period and infertility.

I fact, about 8 in 100,000 people in the United States have myotonic dystrophy (DM). It affects all sexes equally.

Also, DM diagnoses are most likely to occur in adults in their 20s. Therefore the severity of symptoms can vary greatly. However, some people experience mild symptoms, while others have potentially life threatening symptoms involving the heart and lungs. Further, many people with the condition live a long life.

Causes of Muscular Dystrophy

Differences in genes cause muscular dystrophy.

Although, thousands of genes are responsible for the proteins that determine muscle integrity. Hence, people carry genes on 23 pairs of chromosomes, with one-half of each pair inherited from a biological parent.

In fact, one of these pairs of chromosomes is sex-linked. Therefore, this means the traits or conditions you inherit as a result of those genes may depend on your sex or the sex of your parent. The other 22 pairs are not sex-linked and are also known as  autosomal chromosomes.

A change in one gene can lead to deficiencies in dystrophin, a critical protein. The body may not make enough dystrophin, may not make it the right way, or may not make it at all.

People develop muscular dystrophy in one of four ways. The gene differences that cause muscular dystrophy are normally inherited, but they can also come from a spontaneous mutation.

Autosomal Dominant Inherited Disorder

A person inherits a gene difference from just one parent, on one of the 22 autosomal chromosomes.

Each child has a 50% chance of inheriting muscular dystrophy, and people of all sexes are equally at risk. Because this is a dominant gene, only one parent needs to be a carrier for their child to develop muscular dystrophy.

Autosomal Recessive Inherited Disorder

A person inherits a gene difference from both parents, on one of the 22 autosomal chromosomes. The parents are carriers of the gene but don’t develop muscular dystrophy themselves.

Children have a 50% chance of inheriting one copy of the gene and becoming carriers. They have a 25% chance of inheriting both copies. All sexes carry the risk equally.

Sex-linked (X-linked) Disorder

This inheritance is connected to the genes linked to the X chromosome.

Parents may carry two X chromosomes or an X and a Y chromosome. A child receives an X chromosome from one parent and either an X or a Y chromosome from the other. If a child receives a gene difference on the X chromosome from the parent with two X chromosomes, they’ll become carriers of the gene or develop muscular dystrophy.

A child with a faulty X chromosome develops muscular dystrophy if they also inherit a Y chromosome (as is typically the case with children assigned male at birth).

They’re only carriers if they inherit an X chromosome from the other parent (as with children assigned female at birth). This other X chromosome offsets the effect of the X chromosome with the gene difference, as it can produce dystrophin.

Spontaneous Mutation

In this case, muscular dystrophy develops because of a spontaneous change in genes. It occurs in people whose biological parents were not carriers of the gene difference.

Once the change occurs, the carrier can pass it on to their children.

Age of onset for Myotonic Dystrophy Type-1 (DM1)

About half of those with myotonic dystrophy type-1 (DM1) show visible signs by about twenty years of age, but a significant number do not develop clear-cut symptoms until after age fifty.

However, when myotonic dystrophy is suspected (because it is present in other members of the family) careful examination may reveal typical abnormalities before obvious symptoms appear. Also, there are less common forms of myotonic dystrophy with onset in infancy or childhood.

In fact, DM1 tends to be more severe and have an earlier age of onset with each generation in a family. Therefore,  a grandparent might experience their first mild symptoms at age 60, while their children notice symptoms at 30, and grandchildren may be born with severe symptoms – congenital myotonic dystrophy.

biospecimens

Biospecimens

Bay Biosciences is a global leader in providing researchers with high quality, clinical grade, fully characterized human tissue samples, bio-specimens, and human bio-fluid collections.

Human biospecimens are available including cancer (tumor) tissue, cancer serum, cancer plasma, cancer peripheral blood mononuclear cells (PBMC). and human tissue samples from most other therapeutic areas and diseases.

Bay Biosciences maintains and manages its own biorepository, the human tissue bank (biobank) consisting of thousands of diseased samples (specimens) and from normal healthy donors for controls, available in all formats and types.

In fact, our biobank procures and stores fully consented, de-identified and institutional review boards (IRB) approved human tissue samples, human biofluids such as serum samples, plasma samples from various diseases and matched controls.

Also, all our human tissue collections, human biospecimens and human biofluids are provided with detailed, samples associated patient’s clinical data.

In fact, this critical patient’s clinical data includes information relating to their past and current disease, treatment history, lifestyle choices, biomarkers, and genetic information.

Additionally, patient’s data associated with the human biospecimens is extremely valuable for researchers and is used to help identify new effective treatments (drug discovery & development) in oncology, and other therapeutic areas and diseases.

Bay Biosciences banks wide variety of human tissue samples and human biological samples, including fresh frozen human biospecimens cryogenically preserved at – 80°C.

For example fresh frozen tissue samples, tumor tissue samples, formalin-fixed paraffin-embedded (FFPE), tissue slides, with matching human bio-fluids, whole blood and blood-derived products such as human serum, human plasma and human PBMCs.

Bay Biosciences is a global leader in collecting and providing human tissue samples according to the 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

Bay Biosciences provides human tissue samples (human specimens) and human biofluids from diseased and normal healthy donors which includes:

Moreover, we can also procure most human biospecimens and human biofluids, special collections and requests for human samples that are difficult to find. All our human tissue samples and human biofluids are procured through IRB-approved clinical protocols and procedures.

In addition to the standard processing protocols, Bay Biosciences can also provide human biofluids such as  human plasma, human serum, and human PBMCs bio-fluid samples using custom processing protocols; you buy donor-specific collections in higher volumes and specified sample aliquots from us.

Bay Biosciences also provides human biospecimens from normal healthy donors; volunteers, for controls and clinical research, Contact us Now.