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New Genetic Mutation at the Origin of Mirror Movement Syndrome

A pair of hands with palms upwards.
Credit: Luis Quintero/ Pexels
Read time: 2 minutes

The team of Dr. Frédéric Charron, director of the Molecular Biology of Neural Development Research Unit at the Montreal Clinical Research Institute, in collaboration with Dr. Myriam Srour, of the Montreal Children's Hospital, has just made a promising advance in understanding the origins of mirror movement syndrome.

The study, led by first authors Sabrina Schlienger, postdoctoral fellow, and Patricia Yam, research associate, was published in the prestigious journal Science Advances.

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Mirror Movement Syndrome is an inherited neurological condition that manifests as involuntary movements from an early age, primarily of the arms and hands. In affected people, the right hand involuntarily reproduces the movements of the left hand and vice versa, hence the name "mirror movements". This syndrome can cause pain in the arms during prolonged activities and lead to difficulty performing tasks requiring left-right coordination.

“The mirror movement syndrome affects the quality of life on a daily basis. Indeed, the simple fact of buttoning his shirt or tying his shoelaces can be complicated as well as the practice of certain sports or playing a musical instrument such as the piano, "explains Dr. Charron, who is a professor-researcher at the Faculty of Medicine of UdeM.

Attraction of neurons and genetic baggage

Over the past 30 years, scientists have uncovered a group of genes working together, named the “Netrin signaling pathway”, active in attracting neurons connecting the left and right sides of the brain to each other on the one hand and the spinal cord on the other. This mechanism of guiding neurons during embryonic development is essential for motor development.

Dr. Charron's study is based on the observation of this genetic background in a family carrying the disease over more than four generations, then on the use of a preclinical model. She has thus shed light on a new genetic mutation at the origin of mirror movement syndrome and its mechanism of action at the molecular level. The team found that this mutation in a newly activated gene in the Netrin pathway causes abnormal movements analogous to those seen in mirror movement syndrome.

This advance is good news for many people struggling with this condition and who until now did not know which mutated gene was at the origin of their condition. The identification of genes is an important first step that promotes the rapid and efficient establishment of a diagnosis. In addition, understanding the mechanisms causing mirror movements is essential for the search for innovative treatments. Thus, the discovery of this mutation and its action could eventually offer promising new targets in the search for treatments for mirror movement syndrome as well as for other diseases caused by defects in the development of the nervous system.

"This is a great step forward which considerably improves the state of scientific knowledge in our field of study and which shows the strength of combining clinical studies of human genetics with fundamental research", explained Dr. Charron.

Reference: Schlienger S, Yam PT, Balekoglu N, et al. Genetics of mirror movements identifies a multifunctional complex required for Netrin-1 guidance and lateralization of motor control. Sci Adv. 2023;9(19):eadd5501. doi: 10.1126/sciadv.add5501

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