Myocyte Enhancer Factor 2C (MEF2C) is a gene located on chromosome 5 band 14.3, and is known to regulate the expression of a large number of genes important to the development and maintenance of many tissues within the body, including the brain. MEF2C is involved in healthy brain development across the human lifespan and has been shown to play a pivotal role in the onset of neurological disorders including Autism Spectrum Disorder, Alzheimer’s disease, and epilepsy. MEF2C also bears a critical role in the proper functioning of multiple other body systems, including cardiovascular and skeletal systems.
What is MEF2C?
What is MCHS?
MEF2C Haploinsufficiency Syndrome (MCHS) occurs when one of the copies of the MEF2C gene is mutated or deleted, impairing its function and resulting in only half the required MEF2C being produced. MCHS presents as a broad range of symptoms from global developmental delay, absent speech, hypotonia, epilepsy, along with visual, gastrointestinal, cardiovascular, immunological, and dermatological issues. At present, there are over 350 confirmed cases of MCHS worldwide, with over 75% of those cases affecting children under five years old. At present, no MEF2C-specific therapeutics exist, so MCHS caregivers are forced to manage symptoms with little to no therapeutic assistance.
Though the manifestation of MCHS in any given patient may vary based on the exact mutation in the MEF2C gene, the overwhelming majority if not all of MCHS patients are significantly affected by their disease. A typical patient may:
Sleep erratically or very little at night;
Have dozens (sometimes hundreds) of seizures a day;
Move around very little or not at all (the average age to walk is 6 years old);
Not use their hands functionally;
Not be able to swallow safely;
Have no speech;
Make little to no eye contact and have visual impairments;
Fail to engage with their surroundings or understand basic safety;
Display stereotypic and autistic movements.
