Additional Research
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Read more about MEF2C Haploinsufficiency here:
Rocha, Helena et al. MEF2C Haploinsufficiency syndrome: Report of a new MEF2C mutation and review. European journal of medical genetics. 2016; 59,9: 478-82.
A case study of a patient revealed a previously undiscovered de novo mutation of the MEF2C gene, which resulted in a loss of protein function. Researchers compared the symptoms of this new mutation with the symptoms of known MEF2C mutations, specifically focusing on epilepsy and intellectual disabilities. Ultimately, the researchers determined that a wide range of gene mutations can yield similar symptoms in patients.
Vrečar, Irena et al. Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements. Journal of pediatric genetics. 2017; 6,3: 129-141.
This study focuses on observing the symptoms of a small cohort with MCHS. After analysis of the participants, the researchers identified new point mutations. The symptomatic data of the patients with the new point mutations was then compared with existing MCHS data, as well as with symptoms of other genetic disorders, including Rett Syndrome and Angelmann Syndrome, yielding many similarities to both. As a result, researchers proposed a common molecular pathway in the brain between Rett Syndrome and MCHS.
Wan, Lin et al. Genotypes and Phenotypes of MEF2C Haploinsufficiency Syndrome: New Cases and Novel Point Mutations. Frontiers in pediatrics. 2021; 9 664449.
This case study analyzed the symptoms of seven children with MCHS as well as the medical history of their parents. The study had an emphasis on seizures and found that anti-seizure medication was useful in stopping seizures for five out of six patients who experienced them. Of the seven patients, three showed signs of regression. Overall, researchers concluded that seizures can often be eliminated and that regression is uncommon but possible in patients with MCHS.
Zweiwe M, et al. Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. Hum. Mutat. 2010; 31: 722-733.
Through the use of karyotypic imaging in a large case study, researchers analyzed how mutations of the MEF2C gene, as opposed to just deletion, affected mental retardation and intellectual disability. The study identified four new mutations, two point mutations and two truncating mutations. The symptoms that resulted from these mutations bore a strong resemblance to symptoms in patients with MEF2C gene deletion, indicating that symptoms arising from gene mutation and deletion could potentially be resolved with the same treatment.
Piciorkowski AR, et al. MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways. Neurogenetics. 2013; 14: 99-111.
In a large patient cohort, researchers analyzed the specific symptoms of MCHS, ultimately finding hyperkinesis and autistic characteristics to be incredibly common among all of the study participants, whereas there was more variation found in the prevalence and severity of epileptic symptoms. Researchers also conducted forebrain analysis on mice and found that MCHS can affect various developmental pathways of the brain.
Li H, et al. Transcription factor MEF2C influences neural stem/progenitor cell differentiation and maturation in vivo. Proc. Nat. Acad. Sci. 2008; 105: 9397-9402.
Researchers observed mice where the MEF2C gene was intentionally deleted in order to study its effects on the body. Through comparison to normal mice, researchers determined that MEF2C is crucial for brain development, activity, and overall maintenance. In addition, they found that mice with the deleted gene had an abnormal distribution of neurons within the brain, indicating that the MEF2C gene is vital for neurological health.
Barbosa AC, et al. MEF2C, a transcription factor that facilitates learning and memory by negative regulation of synapse numbers and function. Proc.Nat.Acac. Sci. 2008; 105: 9391-9396.
In this study, researchers compared mice with functioning MEF2C genes with mice whose MEF2C genes were intentionally turned off. They found that the mice with the non-functioning MEF2C gene had an increase in the number of their neural excitatory synapses. Previous studies have shown that excitatory synapses are associated with learning, memory, and overall brain development.
Cooley Coleman JA et al. Clinical findings from the landmark MEF2C-related disorders Natural History Study. Mol Genet. Genomic Med. 2022; 10(6): e1919.
The purpose of this study was to create the first large-scale data set for MEF2C disorders. Seventy-three caregivers completed a survey where they reported information, such as height, weight, and common symptoms, regarding their dependent. The caregivers also shared information about the pregnancy. As a result, researchers were able to compile the most common symptoms across the participants’ various MEF2C disorders.
Del Rosario, Chelo et al. How to use the Bayley Scales of Infant and Toddler Development. Archives of disease in childhood. Education and practice edition vol. 106,2 (2021): 108-112.
The Bayley III scale is used to assess the development of infants and toddlers by evaluating their cognitive, motor, language, and emotional skills in order to determine if the child shows symptoms of developmental delay. This study analyzes the scale’s effectiveness and limitations, as well as compares it to the scale’s previous iterations. The researchers concluded that while the Bayley III is a useful scale, it is limited by the fact that it often underestimates the scores of children with developmental delays.
Hassan, Ahmed et al. Regulation of microglial transcription factor MEF2C by Alzheimer’s disease-relevant stimuli. Alzheimer’s Dement. 2021;17(Suppl. 3):e057448.
Previous studies have found that MEF2C plays a vital role in limiting the brain’s inflammatory response. Alzheimer’s Disease, a common brain disorder, is associated with brain inflammation. This study, performed on mice, not only provided further evidence that MEF2C does, in fact, restrain brain inflammation, but also that inflammation reduces the MEF2C’s gene expression and activity. As a result, the researchers have determined that the detection of this link between MEF2C and Alzheimer's Disease could allow for the development of an Alzheimer’s treatment.