• Aging and Sex
  • For men
    • Multi Vitamin for Him CPA
    • Practical Tips to Maintain Sexual Virility
    • ProSolution Plus is a Natural Remedy For Premature Ejaculation
  • for women
    • Breast Actives CPA
    • Four Ways To Look Young
    • Ten Ways to Look Like a Model Bride
  • Home Based Business
    • AWESOME EASY CASH MONEY TO YOU TODAY!
    • Craft Idea for a Group: Make a Mural
    • DIGISOFT PAYLINE How to Make Instant Money Now DIGISOFT PAYLINE
    • Getting Your Family Involved In Your Home Business
    • Home Based Real Estate Investing
    • Home Based Real Estate Investing
    • How To Become A Work At Home Mom
    • How to Get Free Rent
    • Make Extra Cash & Work From Home!
    • Strategies for Success in the Exciting and Lucrative Home-Based Business of Jewelry & Gemstones
    • THE INTERNATIONAL PROJECT OF THE 21st CENTURY
    • WIN FREE DOGECOINS EVERY HOUR!
  • How you can Regain your Youthful Appearance without Expensive Treatments or Surgery!
  • Intelligent nutritional supplements
    • Antioxidants Nutrients Have Powerful Anti-Cancer Activity!
    • AsthmaMist CPA
    • What Are Phytoceramides?
    • Cleanse the Body, Curb Unhealthy Cravings, and Lose Weight with ProShape Rx
  • interesting idea, hobby
    • Christmas Craft: Bead and Pipe Cleaner Ornaments
    • Wedding Crafts Ideas for Saving Money
  • Natural products for weight loss
    • Natural Weight Loss Products
  • Privacy Policy
  • Terms And Conditions

Health and Beauty

The site is about the beauty and health of men, women, children

  • Home

Enter your email address:

Spam Blocked

18,994 spam blocked by Akismet

Mechanism Behind Rare Genetic Disease in Babies Revealed

  • Health

A rare but severe genetic disease that affects babies, children, and adults is caused by gene mutations that destroy the function of a protein but the physiological function was little understood.

In Hyaline Fibromatosis Syndrome (HFS) a glassy substance called hyaline accumulates in the skin and various organs of patients, causing painful deformities and may lead to early death.

‘Hyaline Fibromatosis Syndrome is caused by a mutation of a gene called CMG2. The mutation of the gene causes the protein collagen to lose its function. Collagen accumulates in large nodules under the skin causing painful deformities and may lead to early death.’

EPFL scientists have now studied and characterized its function for the first time, showing that it binds and controls the body levels of an important type of collagen.

HFS is caused by a mutation of a gene called CMG2, also abbreviated as ANTXR2 because it renders cells sensitive to anthrax infections. The gene produces a protein that is embedded in the membrane of cells, and is known to bind anthrax toxins internalizing them into the cell where they exert their action. This is however not the physiological function of this protein.

The HFS mutation of the gene causes the protein to lose its function. A hallmark of the disease is the accumulation of collagen in large nodules under the skin. Collagen is the most abundant protein in mammals, found in skin, cartilage, blood vessels, and even teeth.

There are many different types of collagen, which surround cells and support the body’s various tissues and organs by forming elastic or rigid structural networks.

Disrupted Collagen Function

The lab of Gisou Van der Goot at EPFL has now shown for the first time that the CMG2 protein interacts with a type of collagen called collagen VI. Normally, CMG2 binds collagen VI and, when there is too much, internalizes it into the cell’s lysosomes for degradation.

The study suggests that, in HFS, the mutation of the CMG2 gene disrupts the function of the protein, leading to accumulation of collagen VI in various parts of the body.

Collagen VI is a type of collagen that recent studies have found in multiple sites in the body, such as the heart, neurons, immune cells, tendons, lungs, and the skin. Depending on the type of tissue, it plays different protective and mechanical roles, but it has also been shown to be involved in a number of diseases, including the growth of cancer tumors.

The EPFL researchers studied HFS nodules in mouse models as well as a human patient. The female HFS mice characteristically suffer from accumulation of collagen in the uterus, which makes them sterile.

The human patient had nodules at various body sites including the scalp and behind the ear. Studying tissue samples, the researchers found that the nodules in both mice and human were rich in collagen VI.

Relationship Between CMG2 and Collagen VI

Wanting to understand the relationship between CMG2 and collagen VI, the team developed double-knockout mice in which the genes for both proteins — CMG2 and collagen VI — had been deleted.

Previous studies have shown that CMG2-knockout mice are infertile due to uterine nodules that render them infertile. But remarkably, the scientists found that when the gene for collagen VI was deleted too, the mice regained their fertility, confirming that CMG2 and collagen VI are somehow connected in HFS.

Further studies showed that CMG2 physically binds collagen VI through a specialized domain. The CMG2 protein then acts as a receptor, sending a signal into the cell, causing collagen VI to be internalized and degraded inside the cell’s lysosomes.

The study reveals a major physiological function for CMG2 and demonstrates its interaction with collagen VI. This interaction explains how major HSF symptoms arise when mutation of the CMG2 gene disrupts the ability of the CMG2 protein to control the levels of collagen VI, which then over-accumulates and produces the painful and disfiguring symptoms of the disease.

Source: Eurekalert

Let’s block ads! (Why?)

June 16, 2017 admin

Post navigation

Health24.com | 'I have never had sex, so how could I be HIV positive?' → ← Mom Is Warning Parents About These Rare Lyme Disease Symptoms

Leave a Reply Cancel reply

Your email address will not be published. Required fields are marked *

  • Genital Warts Natural and Alternative Treatment Remedies 1,696 views
  • ‘Love Hormone’ Oxytocin May Enhance Feelings Of Spirituality 942 views
  • WIN FREE DOGECOINS EVERY HOUR! 898 views
  • Ginseng: Root of Immortality 855 views
  • Get Rid of Cellulite, Once and For All! 708 views
  • THE INTERNATIONAL PROJECT OF THE 21st CENTURY 704 views
  • Breast Actives CPA 699 views
  • for women 694 views

Popular articles

  • Genital Warts Natural and Alternative Treatment Remedies 1,696 views | under alternative medetsina
  • ‘Love Hormone’ Oxytocin May Enhance Feelings Of Spirituality 942 views | under alternative medetsina
  • WIN FREE DOGECOINS EVERY HOUR! 898 views
  • Ginseng: Root of Immortality 855 views | under alternative medetsina
  • Get Rid of Cellulite, Once and For All! 708 views | under Body Health
  • THE INTERNATIONAL PROJECT OF THE 21st CENTURY 704 views
  • Breast Actives CPA 699 views
  • for women 694 views
Buy Brand Drugs

Archives

Powered by WordPress | theme SG Double