Free biotech stocks directory, pharma stocks, telemedicine stocks ...

-



cmt disease :: Article Creator

Researchers Develop Technology To Treat Charcot-Marie-Tooth (CMT) Disease

The research team led by Professor Minseok Kim from the Department of New Biology at DGIST (President Yang Kuk) has developed a technology that can treat Charcot-Marie-Tooth (CMT) disease, an incurable hereditary disease, with electric stimulation instead of drug therapy. This technology has considerable potential for the development of an electronic medicine with minimal side effects in the future.

The core of this technology is electric stimulation that corrects the abnormal distribution of peripheral myelin protein 22 (PMP 22), the cause of the disease. The research team discovered it by conducting a series of electric stimulation experiments using a CMT disease subtype 1A (CMT1A) cell model. The study was published in the March 15 issue of the journal Biosensors and Bioelectronics.

CMT disease causes muscle atrophy, numbness, foot deformities, paralysis, and other symptoms due to the loss of myelin sheath in peripheral nerves. It is a genetic disease that affects a large number of people, with approximately 1 in 2,500 individuals affected. However, there is currently no definitive treatment for this disease.

CMT1A, a subtype of CMT disease, is among the most prevalent types of peripheral nerve damage worldwide and is caused by PMP22 overexpression in Schwann cells. PMP22 overexpression in Schwann cells causes the PMP22 protein to aggregate in the cells, ultimately leading to peripheral nerve damage.

To address PMP22 overexpression, Professor Minseok Kim's team developed a CMT1A cell model PMP22-overexpressing schwannoma cell. This team applied a high-speed electric stimulation screening platform to the cells to identify optimal stimulation conditions for effective therapeutic outcomes. This electric stimulation eliminated the PMP22 protein aggregation around the nucleus that occurs in CMT1A disease and restored the normal distribution of the PMP22 protein towards the cell membrane, similar to that of a normal Schwann cell.

In addition, the research team observed an increase in the expression of genes (e.G., MBP, MAG) that play an important role in the formation of myelin sheaths constituting a part of peripheral nerves and changes in the gene expression of transcription factors (Krox-20, Oct-6, c-Jun, and Sox10) that control myelin sheath formation, leading to the induction of myelination in the CMT1A cell model.

Professor Minseok Kim from the Department of New Biology at DGIST stated that, "The key of this study is that it is the first demonstration that electric stimulation can restore the normal distribution of PMP22, which is a major protein in CMT1A disease. We hope that new electric medicine technologies will soon be commercialized to address CMT disease that currently has no cure and causes suffering to millions of people worldwide."

More information: Aseer Intisar et al, Electroceutical approach ameliorates intracellular PMP22 aggregation and promotes pro-myelinating pathways in a CMT1A in vitro model, Biosensors and Bioelectronics (2023). DOI: 10.1016/j.Bios.2022.115055

Provided by DGIST (Daegu Gyeongbuk Institute of Science and Technology)

Citation: Researchers develop technology to treat Charcot-Marie-Tooth (CMT) disease (2023, March 31) retrieved 31 March 2023 from https://medicalxpress.Com/news/2023-03-technology-charcot-marie-tooth-cmt-disease.Html

This document is subject to copyright. Apart from any fair dealing for the purpose of private study or research, no part may be reproduced without the written permission. The content is provided for information purposes only.


What Is Charcot-Marie-Tooth Disease (CMT)?

manusapon kasosod / Getty Images

Charcot-Marie-Tooth disease (CMT) is not a tooth disease. It's a genetic (inherited) nerve disease that affects the nerve health and functioning in your extremities, including your feet, legs, hands, and arms.

These nerve-signaling problems between the brain and body parts affect your sensory nerves (nerves that signal cold and hot or soft and hard) and motor functioning skills. CMT is named after the three doctors who first described the disease in 1886.

According to the National Institute of Neurological Disorders and Stroke, CMT affects an estimated 126,000 individuals in the United States and 2.6 million people worldwide. This makes it one of the most common inherited neurological disorders.

This article will explore the symptoms and causes of CMT, how to get a diagnosis, what treatment options are available to someone with CMT, prognosis or what to expect if you have CMT, and expert tips for coping with this genetic nerve disease.

manusapon kasosod / Getty Images

Symptoms

Symptoms of Charcot-Marie-Tooth disease affect the legs and feet and hands and arms. They can include the following:

  • Muscle weakness in lower legs and foot (can cause "foot drop," difficulty lifting your foot while walking)

  • Structural foot differences like high arch, flat feet, and hammertoe (a toe excessively bent at the middle joint)

  • Loss of muscle around your hands, wrist, feet, and ankles

  • Numbness, discomfort, and pain including joint and muscle pain in your hands and feet

  • Loss of temperature sensation in hands and feet

    • Related:11 Common Types of Pain Scales

    Causes

    CMT is caused by genetic mutations, which can occur in a number of ways and for a variety of reasons. In some cases, people with CMT may have inherited the genetic mutations from their biological parents. In other cases, genetic mutations can occur spontaneously during conception and then are passed down to any future biological children.

    There are over 40 different genes involved in CMT. Risk factors for inheriting and passing down genetic mutations associated with CMT are unique to each individual.

    Story continues

    For example, in some cases only one copy of the genetic mutation from either biological parent is needed to inherit the disease. In these cases, a child with a biological parent with CMT has a 50% greater chance of inheriting the disorder.

    Having a family member with CMT does increase your likelihood of inheriting the genetic mutation, but this is not the same as saying family history equals fate. Talk to a genetic specialist to determine your overall risk.

    Related:What Genomic Testing Can Tell You About Health Risks

    Diagnosis

    Diagnosis for CMT typically begins with a conversation between someone and their healthcare provider. It usually involves the following:

    If you're experiencing symptoms or are feeling nervous, overwhelmed, or disorganized due to the stress of preparing for your medical appointment, you may want to consider bringing a friend or family member to take notes or bring up questions on your behalf.

    Next, the healthcare provider may recommend detailed testing including:

  • Nerve conduction studies or electromyography (EMG) to determine if symptoms are impacting nerves, muscles, or the connection between the two.

  • Genetic testing with a blood test to help determine your likelihood of symptoms being from CMT

  • Nerve biopsy (testing a sample of the nerve) from your leg area in rare cases in which other tests were inconclusive

    • Learn More:What Is Genetic Testing?

    Complications

    Complications of nerve problems can occur. These include injuries from slipping or falling due to muscle weakness in legs and feet or infections in the feet that can go untreated due to a lack of typical pain sensation signaling or temperature sensations. Seeking medical treatment can help prevent complications.

    Treatment

    There is no treatment that can cure CMT, however, there are ways to reduce symptoms impacting your quality of life. Options for CMT treatment include:

  • Physical therapy to help stretch nerves and strengthen muscles to help slow weakness, numbness

  • Occupational therapy to support you in exercising motor skills and adapting to daily tasks

  • Orthopedic devices, including wearing ankle braces, splints, or high-top boots for more ankle support

  • Medications for reducing sensations of pain, if needed

    • Related:What to Know About Telehealth for Orthopedics

    Coping

    Coping with any kind of nerve issue that causes pain and limits your mobility is challenging not only physically, but mentally, too. Coping with CMT can include reaching out for peer and mental health support. You may want to start by visiting the Charcot-Marie-Tooth Association (CMTA) from the  National Organization for Rare Diseases (NORD).

    Struggling to accept a recent diagnosis is understandable and normal. Talking with a trained mental health professional may be helpful. 

    Read Next:Best Online Therapy Services

    Summary

    Charcot-Marie-Tooth Disease is a genetic condition that affects the nerves. Symptoms include weakness, pain, and sensory issues leading to challenges with motor skill functioning. While there is no cure, there are treatments that can help support a healthy life with CMT.

    These include physical therapy to build strength and slow disability, occupational therapy and devices to help with mobility, and medications to reduce symptoms of pain. If interested, support groups and therapy may also help you cope with Charcot-Marie-Tooth disease.


    Here's What You Need To Know About CMT Music Awards Road Closures In Austin

    statesman.Com cannot provide a good user experience to your browser. To use this site and continue to benefit from our journalism and site features, please upgrade to the latest version of Chrome, Edge, Firefox or Safari.

  • Chrome: https://www.Google.Com/chrome/
  • Edge: https://www.Microsoft.Com/edge/
  • Firefox: https://www.Firefox.Com/
  • Safari: Update to latest version through the App Store




    • Comments

    Post a Comment

    Popular posts from this blog

    Azar calls for transparency in Ebola-like death in Tanzania | TheHill - The Hill

    -
    Image
    Health and Human Services Secretary Alex Azar on Monday called for transparency from Tanzanian officials in the case of a patient who recently died after suffering Ebola-like symptoms, The Associated Press  reported . Azar told reporters in Uganda that he and others are “very concerned” and urged Tanzania’s government to share lab results related to the case. ADVERTISEMENT Congo, which borders Tanzania, is in the midst of the second-deadliest Ebola outbreak in history, with confirmed cases now exceeding 3,000. Azar said efforts were underway to secure Tanzania’s compliance with international health regulations and obligations to the World Health Organization (WHO) “to protect Tanzanians as well as all people in the region," according to the AP. Tanzania’s government said Saturday there is no confirmed case of Ebola inside its borders. According to an internal WHO document obtained by AP, the patient, a 34-year-old woman, died on Sept. 8 and was bu...
    Read more

    A Russian lab containing smallpox and Ebola exploded - Vox.com

    -
    Image
    Russia’s State Research Center of Virology, in the city of Koltsovo in Siberia, has one of the largest collections of dangerous viruses anywhere in the world. During the Cold War, the lab developed biological weapons and defenses against them, and it reportedly stored dangerous strains of smallpox, anthrax, and Ebola among other viruses. So lots of people were concerned when an explosion ripped through the facility on Monday. According to Russian independent media , the laboratory was undergoing repairs when a gas bottle exploded, sparking a 30-square-meter fire that left one worker severely burned. Glass throughout the building was reportedly destroyed in the blast, and the fire reportedly spread through the building’s ventilation system . The lab is one of only two in the world known to still have samples of smallpox, which was eradicated from the wild in 1977. The other is in the United States . Experts say that under certain circumstances, an explosion could lead to the releas...
    Read more

    Distinguishing viruses responsible for influenza-like illness

    -
    Image
    bird flu 2021 :: Article Creator Bird Flu Pandemic Preparedness Activities Are Not Evidence Of A Conspiracy Este artículo estará disponible en español en El Tiempo Latino. Flu viruses have a long history of making animals and humans sick. This includes a track record of causing pandemics, which can occur when unfamiliar viruses begin to spread widely among humans. Recently, a type of bird flu — called H5N1 — has been spreading among poultry, dairy cows and wild animals in the U.S. And infecting some farmworkers, adding to existing concerns about the virus's pandemic potential. The U.S. Government, in collaboration with others around the world, has a history of flu pandemic preparedness activities, including monitoring the flu viruses circulating in people and certain animals and stockpiling relevant vaccines and antivirals. These activities are meant to ensure scientists spot any concerning changes to flu viruses' genetics or circulati...
    Read more