Nav: Home

New disease gene for axon degeneration identified through international gene matching

June 20, 2017

Research group from the University of Helsinki has identified a new disease gene for early-onset axonal neuropathy and mild intellectual disability through an international research network, which was brought together by "Tinder for geneticists".

"Thousands of human inherited diseases are known, but yet many disease genes for neurological diseases are waiting for discovery. Despite the new technologies that allow the sequencing of an individual's entire genome, it is often difficult to confirm that a certain genomic variant causes the disease of that patient", says Associate Professor Henna Tyynismaa from the University of Helsinki.

The best proof would be to identify potentially harmful variants in the same gene in multiple individuals who suffer from a similar disease. In the case of rare diseases, this may require finding patients from several different countries.

Tyynismaa's research group studied a family from Finland with three affected children who had an early-onset degeneration of the peripheral nerves. Using genome-wide DNA sequencing, they identified promising variants in a gene called MCM3AP, which was not a previously confirmed human disease gene.

Clinical researcher Emil Ylikallio submitted the gene name to a freely accessible website called GeneMatcher, which could be described as 'Tinder for geneticists'. It connects individuals who post the same gene by sending an email notification to the submitters. No other information than the gene name is required for the matching, and the follow-up is up to the submitters once they receive a notification for a matching interest.

Ylikallio was pleased to receive several gene matches for MCM3AP from doctors and geneticists around the world, which appeared to associate with a similar disease as their own patients had. Finally four additional families where identified in Australia, Canada, Turkey and Belgium, with different combinations of mutations in this recessive disease gene, causing axonal neuropathy and mild intellectual disability. The disease has progressed at different rates in the individual patients, but most had lost ambulation at a young age.

"MCM3AP is an interesting gene, which was not previously known to have such a crucial role in nerves. Its function is likely to be related to messenger-RNA export from the nucleus. Disease mechanisms related to defective messenger-RNA export are important for example in the progressive motor neuron disease ALS," Tyynismaa clarifies.

Doctoral student Rosa Woldegebriel, who participated in the study, is now investigating the disease mechanisms of mutant MCM3AP in cultured motor neurons, which have been differentiated from reprogrammed stem cells that were derived from the from the patients' skin biopsies.. These studies will hopefully clarify the function of MCM3AP in motor neurons, and identify ways to prevent the harmful effects of the mutations.

University of Helsinki

Related Motor Neurons Articles:

Synergy emergence in deep reinforcement motor learning
Human motor control has always been efficient at executing complex movements naturally, efficiently, and without much thought involved.
Plasticizers may contribute to motor control problems in girls
Scientists at the Columbia Center for Children's Environmental Health (CCCEH) have uncovered a link between prenatal exposure to phthalates--a ubiquitous group of plasticizers and odor-enhancing chemicals--and deficits in motor function in girls.
How your brain remembers motor sequences
Researchers at the National Institute of Information and Communications Technology (NICT), Japan, and Western University, Canada, have succeeded in visualizing how information is represented in a widespread area in the human cerebral cortex during a performance of skilled finger movement sequences.
Tiny motor can 'walk' to carry out tasks
MIT researchers have assembled microrobots from a small set of standardized components, as a step toward self-replicating systems.
Statins could protect against motor neurone disease
High cholesterol has been found to be a possible risk factor for the development of motor neurone disease (MND), according to a large study of genetic data led in the UK by Queen Mary University of London, in collaboration with the National Institutes of Health in the USA.
Scientists accidentally reprogram mature mouse GABA neurons into dopaminergic-like neurons
Attempting to make dopamine-producing neurons out of glial cells in mouse brains, a group of researchers instead converted mature inhibitory neurons into dopaminergic cells.
Motor learning for precise motor execution
Scientists at Tokyo Metropolitan Institute of Medical Science, RIKEN, National Center of Neurology and Psychiatry, Nozomi Hospital and Tokyo Medical and Dental University have identified acquisition of two types of internal models for motor control, which are likely to be stored in the cerebellum.
Optimizing dopaminergic treatment improves non-motor symptoms
Non-motor symptoms are common in late stage Parkinson's disease (PD) as the frequency and severity of most of these symptoms increase with advancing disease.
Molecular motor: Four states of rotation
With the help of ultrafast spectroscopy and quantum mechanical calculations, Ludwig-Maximilians-Universitaet (LMU) in Munich researchers have characterized the complete rotational cycle of the light-driven, chemical motor molecule hemithioindigo.
Brain's tiniest blood vessels trigger spinal motor neurons to develop
A new study has revealed that the human brain's tiniest blood vessels can activate genes known to trigger spinal motor neurons, prompting the neurons to grow during early development.
More Motor Neurons News and Motor Neurons Current Events

Trending Science News

Current Coronavirus (COVID-19) News

Top Science Podcasts

We have hand picked the top science podcasts of 2020.
Now Playing: TED Radio Hour

Listen Again: Reinvention
Change is hard, but it's also an opportunity to discover and reimagine what you thought you knew. From our economy, to music, to even ourselves–this hour TED speakers explore the power of reinvention. Guests include OK Go lead singer Damian Kulash Jr., former college gymnastics coach Valorie Kondos Field, Stockton Mayor Michael Tubbs, and entrepreneur Nick Hanauer.
Now Playing: Science for the People

#562 Superbug to Bedside
By now we're all good and scared about antibiotic resistance, one of the many things coming to get us all. But there's good news, sort of. News antibiotics are coming out! How do they get tested? What does that kind of a trial look like and how does it happen? Host Bethany Brookeshire talks with Matt McCarthy, author of "Superbugs: The Race to Stop an Epidemic", about the ins and outs of testing a new antibiotic in the hospital.
Now Playing: Radiolab

Dispatch 6: Strange Times
Covid has disrupted the most basic routines of our days and nights. But in the middle of a conversation about how to fight the virus, we find a place impervious to the stalled plans and frenetic demands of the outside world. It's a very different kind of front line, where urgent work means moving slow, and time is marked out in tiny pre-planned steps. Then, on a walk through the woods, we consider how the tempo of our lives affects our minds and discover how the beats of biology shape our bodies. This episode was produced with help from Molly Webster and Tracie Hunte. Support Radiolab today at