• HOME
  • NEWS
  • EXPLORE
    • CAREER
      • Companies
      • Jobs
    • EVENTS
    • iGEM
      • News
      • Team
    • PHOTOS
    • VIDEO
    • WIKI
  • BLOG
  • COMMUNITY
    • FACEBOOK
    • INSTAGRAM
    • TWITTER
Monday, August 25, 2025
BIOENGINEER.ORG
No Result
View All Result
  • Login
  • HOME
  • NEWS
  • EXPLORE
    • CAREER
      • Companies
      • Jobs
        • Lecturer
        • PhD Studentship
        • Postdoc
        • Research Assistant
    • EVENTS
    • iGEM
      • News
      • Team
    • PHOTOS
    • VIDEO
    • WIKI
  • BLOG
  • COMMUNITY
    • FACEBOOK
    • INSTAGRAM
    • TWITTER
  • HOME
  • NEWS
  • EXPLORE
    • CAREER
      • Companies
      • Jobs
        • Lecturer
        • PhD Studentship
        • Postdoc
        • Research Assistant
    • EVENTS
    • iGEM
      • News
      • Team
    • PHOTOS
    • VIDEO
    • WIKI
  • BLOG
  • COMMUNITY
    • FACEBOOK
    • INSTAGRAM
    • TWITTER
No Result
View All Result
Bioengineer.org
No Result
View All Result
Home NEWS Science News Biology

New muscular disease: Myoglobinopathy

Bioengineer by Bioengineer
March 27, 2019
in Biology
Reading Time: 2 mins read
0
Share on FacebookShare on TwitterShare on LinkedinShare on RedditShare on Telegram

An international collaboration led by IDIBELL identifies the first disease caused by a mutation in myoglobin

IMAGE

Credit: Bellvitge Biomedical Research Institute (IDIBELL)

Researchers of the Bellvitge Biomedical Research Institute (IDIBELL) led by Dr. Montse Olivé have described in Nature Communications a new muscular disease caused by a mutation in the myoglobin gene. The study has been possible thanks to a collaboration with a group of geneticists from the University of Western Australia (UWA), led by Prof. Nigel Laing, and researchers from the Karolinska Institute (Stockholm, Sweden).

Myoglobin, the protein that gives muscles their red colour, has as its main function the transportation and intracellular storage of oxygen, acting as an oxygen reservoir when there are low levels (hypoxia) or a total lack thereof (anoxia). It also acts as scavenger of free radicals and other reactive oxygen species, avoiding cell damage due to oxidative stress.

“This is the first time that a disease caused by a mutation in the myoglobin gene has been identified”, says Montse OlivĂ©, doctor at the Bellvitge University Hospital, responsible for the muscular disease area and researcher of the Human Molecular Genetics group of the Genes, Disease and Therapy at IDIBELL. “We have identified the same mutation in several members of 6 unrelated European families, all of whom had the same symptoms and showed very characteristic lesions – called sarcoplasmic bodies – in muscle biopsies,” adds Dr OlivĂ©.

Myoglobinopathy, the name that has been proposed for the new disease, manifests between the fourth and fifth decade of life. It causes a progressive weakness of the axial and limb muscles, and in more advanced stages affects the respiratory musculature and the heart.

The study has also involved, among others, researchers from the ALBA synchrotron and the Autonomous University of Barcelona (UAB). The infrared microscopy of the MIRAS beamline at the synchrotron, which is able to characterize the chemical composition and structure of proteins, allowed researchers to demonstrate the presence of oxidized lipids in the damaged muscle cells. “We have observed that sarcoplasmic bodies correspond to oxidized lipids and misfolded proteins”, says Nuria Benseny, a postdoctoral researcher at the ALBA synchrotron.

Finally, researchers from the universities of Modena and Vienna have identified an alteration in the biochemical and thermodynamic properties of the mutated myoglobin, including an alteration in the oxygen-binding capacity that contributes to the formation of the lipid and protein aggregates that are found in the muscles of the patients.

This discovery has allowed to establish the diagnosis for some patients after many years and will allow researchers to focus on finding a cure for this disease from now on.

###

Media Contact
Gemma Fornons
[email protected]

Original Source

http://www.idibell.cat/en/whats-on/noticies/new-muscular-disease-myoglobinopathy

Related Journal Article

http://dx.doi.org/10.1038/s41467-019-09111-2.

Tags: CardiologyCell BiologyGenesGeneticsHealth CareMedicine/HealthMolecular BiologyPainPulmonary/Respiratory Medicine
Share12Tweet8Share2ShareShareShare2

Related Posts

Surviving Deserts: The Adaptive Genus Tribulus

Surviving Deserts: The Adaptive Genus Tribulus

August 25, 2025
blank

Direct Repeats Discovered Near Intron Splice Sites

August 25, 2025

Pollinator Patterns and Phenology in Hohenbergia Species

August 25, 2025

Unveiling Archaeoniscus brodiei: Early Cretaceous Isopod Insights

August 25, 2025
Please login to join discussion

POPULAR NEWS

  • blank

    Molecules in Focus: Capturing the Timeless Dance of Particles

    141 shares
    Share 56 Tweet 35
  • Breakthrough in Computer Hardware Advances Solves Complex Optimization Challenges

    136 shares
    Share 54 Tweet 34
  • New Drug Formulation Transforms Intravenous Treatments into Rapid Injections

    115 shares
    Share 46 Tweet 29
  • Neuropsychiatric Risks Linked to COVID-19 Revealed

    81 shares
    Share 32 Tweet 20

About

We bring you the latest biotechnology news from best research centers and universities around the world. Check our website.

Follow us

Recent News

Food Insecurity and Diabetes: Pathways to Glycemic Control

Scoping Review: Delirium Detection Tools in Long-Term Care

Surviving Deserts: The Adaptive Genus Tribulus

  • Contact Us

Bioengineer.org © Copyright 2023 All Rights Reserved.

Welcome Back!

Login to your account below

Forgotten Password?

Retrieve your password

Please enter your username or email address to reset your password.

Log In
No Result
View All Result
  • Homepages
    • Home Page 1
    • Home Page 2
  • News
  • National
  • Business
  • Health
  • Lifestyle
  • Science

Bioengineer.org © Copyright 2023 All Rights Reserved.