We are independent & ad-supported. We may earn a commission for purchases made through our links.
Advertiser Disclosure
Our website is an independent, advertising-supported platform. We provide our content free of charge to our readers, and to keep it that way, we rely on revenue generated through advertisements and affiliate partnerships. This means that when you click on certain links on our site and make a purchase, we may earn a commission. Learn more.
How We Make Money
We sustain our operations through affiliate commissions and advertising. If you click on an affiliate link and make a purchase, we may receive a commission from the merchant at no additional cost to you. We also display advertisements on our website, which help generate revenue to support our work and keep our content free for readers. Our editorial team operates independently of our advertising and affiliate partnerships to ensure that our content remains unbiased and focused on providing you with the best information and recommendations based on thorough research and honest evaluations. To remain transparent, we’ve provided a list of our current affiliate partners here.

What is a Desmin?

By Helga George
Updated May 17, 2024
Our promise to you
WiseGeek is dedicated to creating trustworthy, high-quality content that always prioritizes transparency, integrity, and inclusivity above all else. Our ensure that our content creation and review process includes rigorous fact-checking, evidence-based, and continual updates to ensure accuracy and reliability.

Our Promise to you

Founded in 2002, our company has been a trusted resource for readers seeking informative and engaging content. Our dedication to quality remains unwavering—and will never change. We follow a strict editorial policy, ensuring that our content is authored by highly qualified professionals and edited by subject matter experts. This guarantees that everything we publish is objective, accurate, and trustworthy.

Over the years, we've refined our approach to cover a wide range of topics, providing readers with reliable and practical advice to enhance their knowledge and skills. That's why millions of readers turn to us each year. Join us in celebrating the joy of learning, guided by standards you can trust.

Editorial Standards

At WiseGeek, we are committed to creating content that you can trust. Our editorial process is designed to ensure that every piece of content we publish is accurate, reliable, and informative.

Our team of experienced writers and editors follows a strict set of guidelines to ensure the highest quality content. We conduct thorough research, fact-check all information, and rely on credible sources to back up our claims. Our content is reviewed by subject-matter experts to ensure accuracy and clarity.

We believe in transparency and maintain editorial independence from our advertisers. Our team does not receive direct compensation from advertisers, allowing us to create unbiased content that prioritizes your interests.

A desmin is a type of protein involved in stabilizing muscle structures. Sometimes, the gene encoding the protein has a mutation and produces a defective protein. This causes a disease called Desmin Related Myopathy (DRM) that is a rare, but very serious condition.

Intermediate filaments are tough, durable fibers made of proteins that form a meshwork in the cytoplasm surrounding the nucleus, and extend out to the plasma membrane. Their major function is to resist mechanical stress. Desmin is a type III intermediate filament protein, the class that is the most widespread of all intermediate filament proteins. It is found in skeletal muscle tissue, which is involved in movement and heart muscle tissue. These tissues are very effective at resisting stretching, because they are made up of myofibrils — long threads that are combined into parallel fibers.

A sarcomere is the structural unit of a myofibril. It is the sarcomeres that allow the cells to contract. The sarcomere has a band running through it called the Z-line, and desmin molecules bind around the Z-line to connect it to the muscle cell’s plasma membrane. With this connection to the sarcomere, desmin links the apparatus for contraction to a number of cellular structures. This maintains the stability of the cell as it contracts.

When the gene for desmin is mutated, DRM, also known as desminopathy, results. In this, the substance can no longer form protein filaments, and rather forms clumps throughout the cells. The sarcomeres no longer align, and the muscle fibers become disorganized and then die. This disruption is thought to affect other structures in the cell that also contribute to the demise of the muscle fibers.

Desminopathy was discovered in the 1990s. It can be transmitted through families genetically, or individuals can develop it spontaneously by developing a new mutation in the desmin gene. In many cases, there is no family history. The disease is considered to be very rare, but there appear to be many cases that are misdiagnosed, or not properly identified as desminopathy.

Weakness can develop in infancy or adulthood, affecting either the legs or the arms. It may also manifest as a heart condition. The disease can result in sudden early death. The age at which the disease appears and the rate at which it progresses may depend on the particular gene mutation, and the type of inheritance. There is no cure, but the symptoms can be treated. Genetic testing is now available for this disease.

There are other genes that can be involved in desminopathy. For instance, there is a gene for a protein that interacts with desmin called alpha B-crystallin, and its mutation can cause the development of desminopathy. Other unidentified genes have also been linked to the disorder.

WiseGeek is dedicated to providing accurate and trustworthy information. We carefully select reputable sources and employ a rigorous fact-checking process to maintain the highest standards. To learn more about our commitment to accuracy, read our editorial process.
Discussion Comments
WiseGeek, in your inbox

Our latest articles, guides, and more, delivered daily.

WiseGeek, in your inbox

Our latest articles, guides, and more, delivered daily.