MECP2

Mutations in the gene coding for Cyclin-Dependent Kinase-Like 5 (CDKL5) present like early-seizure onset Rett 's and cause severe mental retardation. They can show features similar to Rett Syndrome even lacking the MECP2 mutation. (8) Patients with mutations in the FOXG1 gene can present with the congenital variant of Rett’s. The gene codes for a protein which may share common roles with MECP2 in brain development. (9) Diagnosis Diagnosis of Rett’s is clinical, not genetic. The main criteria, the key component of diagnosis of Rett’s include: loss of hand skills, spoken language, and normal gait, plus stereotyped hand movements. See Fig 1 for details. Testing There is a diagnostic test available for Rett’s Syndrome which finds the mutation for up to 95% of females with typical Rett’s. A combination of sequencing via PCR (finds 80-85% cases) and deletion analysis (adds another 10%) is used for the test. This gives a very sensitive test. The test can be requested when a clinician or parent wants it.Since symptoms of Rett’s are highly varied…

2007). The mutations render the transcriptional repressor dysfunctional, and therefore MECP2 is not able to ‘turn off’ genes that are normally turned off during development. This leads to an imbalance in gene expression in the brain, which can have vast neuron impacts and can reduce overall neuronal activity (Chahrour, M., Huda, Z. 2007). Specifically, a study found a decrease in the functional units of the brain, reduced dendrite branching, and shorted and sparse dendrites in the frontal cortex…

Molecular testing does have the potential to lead to an early confirmation of Rett syndrome in an infant girl. Molecular testing would identify any MECP2 gene mutation. There are more than 200 different MECP2 mutations and in patients with classic Rett syndrome there is a 90% detection rate (Smeets et al., 2012). Often patients diagnosed with Rett syndrome show symptoms of autism and it is not unlikely that a patient could have both autism and Rett syndrome. Younger patients with Rett…

In China, a group of researchers genetically altered a dozen of monkeys to duplicate systems of autism. The researchers first conducted this research on mice, but quickly realized that a mouse’s brain is so much different from the human brain that no real results could be tested. The purpose for testing with monkeys was to develop treatment plans and to determine what some of the reasons are for why autism exists today. The monkeys showed signs of autism by displaying repetitive actions, such as…

Rett Syndrome is a disorder that affects the nervous system and is found almost exclusively in girls. Rett syndrome is caused by a malfunction in the MECP2 gene. What is exactly the MECP2 gene? Well MECP2 gene is the gene that encodes protein and essentials. How can you prevent Rett Syndrome? Well doctors have proved that Rett Syndrome is a randomly found in a female infant. RTT is a non-inherited genetic disorder. Rett Syndrome is often described as autism, cerebral palsy, Parkinson’s,…

Surprisingly, long-term depression is absent in MeCP2 null mice, and even the neurotransmission is unaltered in the hippocampus region. Researchers also investigated an alteration in the NMDA receptor in the symptomatic MeCP2 null mice. According to another author Saju Balakrishnan et al., (2016), patch clamp electrophysiology study in the hippocampal CA1 region of the brain reveals that alteration in NMDA receptor may underlie the reduced expression of LTP in MeCP2 null mice. Electrophysiology…

One of these is Rett syndrome, which is an X-linked neurodevelopmental disorder. Children with Rett’s seem to develop normally up unto 6-18 months and then there is regression that is characterized by a loss of motor skills (Percy, 2016). A genetic basis for Rett’s was discovered in 1999 which showed that a mutation in methyl-CpG binding protein 2 (MECP2) was to blame for this disorder (Chahrour & Zoghbi, 2007). In almost 95% of cases mutations in MECP2 are found with most arising from sporadic…

A very small number of boys have a different MECP2 mutation and can have some developmental delay. Rett Syndrome has an unknown etiology, perhaps because of the lack of bulk investigations available. According to Pellock, there is a mutation on the X chromosome which affects the methyl-CpG-binding protein 2 (MECP2). There are also other mutations that can cause atypical or congenial Rett Syndrome such as mutations in the CDKL5 and FOXG1 genes. These cases may be caused by partial gene…

stronger similarity among monozygotic twins when compared to dizygotic twins, which further shows evidence of their being a genetic origin to these neurodevelopmental symptoms [3]. Because genetics play a major role in neurodevelopmental disorders, it is important to consider some specific genetic causes of these disorders. A 2015 study by Boivin states six genetic causes of neurodisabilities in children. They are as follows: disorders caused by specific genomic lesions (either heritable or…

However not until Dr. Bengt Hagberg made a second article about this disorder in 1983, was it publicly known (RSRP). Much later after this, in 1999 scientists at Baylor University in Texas, discovered that when the gene MeCP2 is mutated, Rett Syndrome is officially formed (RSRP). There are many symptoms that go along with Rett, some may be more severe and others not as harmful. Normally when someone has been diagnosed with Rett Syndrome, they lose the ability to use their hands properly, they…