Possible treatment for Charcot-Marie-Tooth disease discovered

August 9, 2018, Max Planck Society
Possible treatment for Charcot-Marie-Tooth disease discovered
Compared to healthy rats (left), rats with the Charcot-Marie-Tooth disease (central) show less myelin surrounding the axons, visible as missing blue rings. Animals treated with Lecithin (right) show an increase in myelinated filaments. Credit: Max-Planck-Institute for Experimental Medicine

Charcot-Marie-Tooth disease is the most common hereditary neuropathy and affects more than 2 million people worldwide. Researchers at the Max-Planck-Institute for Experimental Medicine and the University Medical Center of Göttingen now hope to use lecithin, a harmless dietary supplement, to treat the incurable illness.

In Germany alone, at least 30,000 people suffer from Charcot-Marie-Tooth neuropathy, which belongs to the class of rare diseases. Due to a genetic defect that causes a duplication of the PMP22 gene, patients develop a slowly progressive impairment of their peripheral nerves. Early symptoms, like walking difficulties or deformed feet, can occur during childhood. Later, muscle weakness in legs and arms occurs, but also numbness, prickling or pain. In rare cases, patients may be forced to use wheelchairs.

The axons, projections of in the peripheral nervous system, are surrounded by supporting over their entire length. These Schwann cells produce a fatty layer, myelin, around the axons, which allows for a faster transfer of electric signals. Using genetically modified rats, scientists at the Max-Planck-Institute for Experimental Medicine, the University Medical Center in Göttingen, as well as neuroscientists from Leipzig, Würzburg, Heidelberg and Aachen, have now discovered that diseased Schwann cells show a decreased fat metabolism during their development, which causes the impaired myelination. "The production of myelin is extremely laborious for Schwann cells. A disruption, like the one the Charcot-Marie-Tooth disease causes, leaves the nerve fibers without myelin, which limits their functionality," explains Robert Fledrich, the first author of the study.

Schwann cells use phospholipids for the myelination

Using lecithin, the reduced fat production of Schwann cells might be circumvented and the disturbed myelination in Charcot-Marie-Tooth disease might be improved. Lecithin is produced from soy or yolk and consists of phospholipids. It is a harmless dietary supplement, and the main ingredient of myelin. Initially, the scientists were able to show that the phospholipids in genetically modified rats were absorbed by the Schwann cells and used for the production of myelin.

Therapy studies with diseased rats that were given in various doses not only showed that a treatment with phospholipids promotes myelination—"It significantly eases the course of the disease regardless of the start of the therapy," explains Ruth Stassart, co-leader of the study.

"The promising data from the animal testing and especially the already proven compatibility of with humans, promote Lecithin as a therapeutic agent for the Charcot-Marie-Tooth as well as possibly for similar demyelinating diseases," adds Michael Sereda, a neurologist at the Department of Clinical Neurophysiology and group leader at the Max-Planck-Institute, who directed the study.

Explore further: Potential therapy for incurable Charcot-Marie-Tooth disease

More information: R. Fledrich et al. Targeting myelin lipid metabolism as a potential therapeutic strategy in a model of CMT1A neuropathy, Nature Communications (2018). DOI: 10.1038/s41467-018-05420-0

Related Stories

Potential therapy for incurable Charcot-Marie-Tooth disease

August 26, 2014
Charcot-Marie-Tooth disease type 1A is the most common inherited disease affecting the peripheral nervous system. Researchers from the Department of Neurogenetics at the Max Planck Institute of Experimental Medicine and University ...

Researchers discover nerve repair mechanism

May 29, 2018
The research group of the Physiology Department of Elche's Universidad Miguel Hernández (UMH), Hugo Cabedo, has discovered how peripheral nerves induce the repair of the myelin sheath so that communication is properly restored ...

Glial cells assist in the repair of injured nerves

January 28, 2013
When a nerve is damaged, glial cells produce the protein neuregulin1 and thereby promote the regeneration of nerve tissue.

Study uncovers key to development of peripheral nervous system

May 29, 2013
Patients suffering from hereditary neuropathy may have hope for new treatment thanks to a Geisinger study that uncovered a key to the development of the peripheral nervous system.

Recommended for you

Antidepressant restores youthful flexibility to aging inhibitory neurons in mice

August 20, 2018
A new study provides fresh evidence that the decline in the capacity of brain cells to change, called "plasticity," rather than a decline in total cell number may underlie some of the sensory and cognitive declines associated ...

Perinatal hypoxia associated with long-term cerebellar learning deficits and Purkinje cell misfiring

August 18, 2018
Oxygen deprivation associated with preterm birth leaves telltale signs on the brains of newborns in the form of alterations to cerebellar white matter at the cellular and the physiological levels. Now, an experimental model ...

Automated detection of focal epileptic seizures in a sentinel area of the human brain

August 17, 2018
Patients with focal epilepsy that does not respond to medications badly need alternative treatments.

Men and women show surprising differences in seeing motion

August 16, 2018
Researchers reporting in the journal Current Biology on August 16 have found an unexpected difference between men and women. On average, their studies show, men pick up on visual motion significantly faster than women do.

Brain response study upends thinking about why practice speeds up motor reaction times

August 16, 2018
Researchers in the Department of Physical Medicine and Rehabilitation at Johns Hopkins Medicine report that a computerized study of 36 healthy adult volunteers asked to repeat the same movement over and over became significantly ...

Newly identified role for inhibition in cerebellar plasticity and behavior

August 16, 2018
Almost everyone is familiar with the unique mixture of surprise and confusion that occurs after making a mistake during an everyday movement. It's a fairly startling experience—stumbling on a step or accidentally missing ...

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.