Scientists discovered genetic cause for rare disorder of motor neurones

December 7, 2012

(Medical Xpress)—Scientists have identified an underlying genetic cause for a rare disorder of motor neurones, and believe this may help find causes of other related diseases.

Disorders of motor neurones are a group of progressive that damage the nervous system, causing and wasting. These diseases affect many thousands of people in the UK. A number are inherited but the causes of the majority remain unknown, and there are no cures.

The new study has discovered a that causes a rare disorder of motor neurones called distal hereditary motor neuropathy (dHMN). The researchers say their findings raise a possibility that mutations of the same gene or genes with similar roles might underlie other disorders of motor neurones. This could open up the potential for new treatment options, not only for dHMN but also for the wider group of these disorders.

dHMN principally affects muscles of the hands and feet, and sometimes causes a hoarse voice. Symptoms usually begin during adolescence although this can vary from infancy to the mid-thirties.

The study to investigate possible genetic causes of dHMN was led by Professor Andrew Crosby and Dr Meriel McEntagart at St George's, University of London. It has been published in the .

The researchers carried out genetic sequencing of 26 members of one family in which 14 members were affected by dHMN and 12 were not. The mutation was found in all the affected members of the family.

The mutation of the gene – called SLC5A7 – was found to disrupt the function of a molecule called the choline transporter (CHT). CHT is responsible for carrying an essential nutrient called choline to the neuromuscular junctions, the areas in the body where nerves meet muscles and that are essential for motor function. This disruption to the function of the neuromuscular junctions leads to the debilitating symptoms.

Mutations of other genes affecting the function of the are known to cause other unrelated neuromuscular disorders. But this is the first time a mutation affecting these specific areas has been linked to any disorder of motor neurones.

Professor Andrew Crosby of St George's, University of London said: "This genetic mechanism has never been linked with a disorder of motor neurones, so it indicates a new biological basis for this group of conditions. Knowledge of the biological pathway related to dHMN will potentially allow us to develop possible treatment options."

Professor Crosby said the latest findings about dHMN will enable them to conduct genetic testing for risk of this rare disease in affected families, using an existing assay. This should also allow them to test for risk of other disorders related to the same mechanism.

"This a very promising step that may provide clues about other unexplained disorders of motor neurones caused by a similar biological disease mechanism", added Professor Crosby.

"A goal now is to investigate this biological mechanism in other patients with unexplained degenerative disorders of motor neurones."

Explore further: Cell study may aid bid for motor neurone therapies

More information: dx.doi.org/10.1016/j.ajhg.2012.09.019

Related Stories

New research sheds light on childhood neuromuscular disease

November 20, 2012

A study by scientists at the Motor Neuron Center at Columbia University Medical Center suggests that spinal muscular atrophy (SMA), a genetic neuromuscular disease in infants and children, results primarily from problems ...

Recommended for you

Genome-editing 'toolbox' targets multiple genes at once

July 26, 2016

A Yale research team has designed a system to modify, or edit, multiple genes in the genome simultaneously, while also minimizing unintended effects. The gene-editing "toolbox" provides a user-friendly solution that scientists ...

New genetic clues into motor neuron disease

July 26, 2016

Researchers at The University of Queensland have contributed to the discovery of three new genes which increase the risk of motor neuron disease (MND), opening the door for targeted treatments.

Chinese team to pioneer first human CRISPR trial

July 22, 2016

(Medical Xpress)—A team of researchers at Sichuan University's West China Hospital has announced plans to begin a clinical trial where cells modified using the CRISPR gene editing technique will be used on human beings ...

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.