Artificial chromosomes could reverse the genetic defects associated with Duchenne muscular dystrophy

January 25, 2018, Royal Holloway, University of London

Scientists at Royal Holloway, University of London, along with colleagues at UCL, have developed a novel artificial human chromosome which could be used to reverse the genetic defect in muscle stem cells from patients with Duchenne muscular dystrophy (DMD).

DMD is a very serious X-chromosome-linked inherited disease in young boys which leads to a debilitating and ultimately life-threatening muscle wasting condition for which no good treatments exist. DMD patients are often wheel-chair users by early teens, and generally require respiratory support by the age of 20.

The current study, carried out by Professor George Dickson and Dr. Linda Popplewell from the School of Biological Sciences, in collaboration with Dr. Saverio Tedesco and colleagues at UCL, focused on the genetic correction of DMD using gene therapy to develop this novel artificial chromosome system.

The researchers used an entirely man-made chromosome that contains a dystrophin gene, which works as part of a group of proteins to strengthen and protect them from injury and act as an anchor, connecting each cell's structural framework with the lattice of proteins and other molecules outside the cell.

Professor Dickson said: "These exciting results are a world-first and leading-edge science. Production of an artificial human chromosome containing an intact healthy copy of the gene affected in DMD is a tremendous feat of genetic engineering, and we are very proud to have played our part. This achievement is a first step towards a chromosome transfer therapy for this debilitating illness."

Explore further: Researchers create skeletal muscle from stem cells

Related Stories

Researchers create skeletal muscle from stem cells

December 18, 2017
UCLA scientists have developed a new strategy to efficiently isolate, mature and transplant skeletal muscle cells created from human pluripotent stem cells, which can produce all cell types of the body. The findings are a ...

Takeda and UCL to work together to tackle muscle disorders

March 10, 2014
Japanese pharmaceutical company Takeda will work with University College London (UCL) to drive research into tackling muscle disorders, in particular muscular dystrophy.

In lab research, scientists slow progression of a fatal form of muscular dystrophy

December 8, 2017
In a paper published in the Nature journal Scientific Reports, Saint Louis University (SLU) researchers report that a new drug reduces fibrosis (scarring) and prevents loss of muscle function in an animal model of Duchenne ...

Duchenne muscular dystrophy is a stem cell disease

November 16, 2015
A new study from The Ottawa Hospital and the University of Ottawa is poised to completely change our understanding of Duchenne muscular dystrophy and pave the way for far more effective treatments.

Researchers find shortened telomeres linked to dysfunction in Duchenne muscular dystrophy

September 7, 2017
Researchers from the Perelman School of Medicine at the University of Pennsylvania have made a discovery about muscular dystrophy disorders that suggest new possibilities for treatment. In a study published today online in ...

Recommended for you

Drug targets for Ebola, Dengue, and Zika viruses found in lab study

December 13, 2018
No drugs are currently available to treat Ebola, Dengue, or Zika viruses, which infect millions of people every year and result in severe illness, birth defects, and even death. New research from the Gladstone Institutes ...

Exercise-induced hormone irisin triggers bone remodeling in mice

December 13, 2018
Exercise has been touted to build bone mass, but exactly how it actually accomplishes this is a matter of debate. Now, researchers show that an exercise-induced hormone activates cells that are critical for bone remodeling ...

Faster test for Ebola shows promising results in field trials

December 13, 2018
A team of researchers with members from the U.S., Senegal and Guinea, in cooperation with Becton, Dickinson and Company (BD), has developed a faster test for the Ebola virus than those currently in use. In their paper published ...

Law professor suggests a way to validate and integrate deep learning medical systems

December 13, 2018
University of Michigan professor W. Nicholson Price, who also has affiliations with Harvard Law School and the University of Copenhagen Faculty of Law, suggests in a Focus piece published in Science Translational Medicine, ...

Pain: Perception and motor impulses arise in brain independently of one another

December 13, 2018
Pain is a negative sensation that we want to get rid of as soon as possible. In order to protect our bodies, we react by withdrawing the hand from heat, for example. This action is usually understood as the consequence of ...

Researchers give new insight to muscular dystrophy patients

December 13, 2018
New research by University of Minnesota scientists has revealed the three-dimensional structure of the DUX4 protein, which is responsible for the disease, facioscapulohumeral muscular dystrophy (FSHD). Unlike the majority ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.