Rett syndrome is a rare neurological disorder that almost exclusively affects females. The syndrome was named after Andreas Rett, an Austrian pediatrician who first described the condition in 1966. Rett syndrome affects the child’s ability to speak, walk, eat, and even breathe easily. Approximately one in every 10,000 to 15,000 live female infants will develop Rett syndrome ensuing in a spectrum of disabilities that can range from mild to severe. Understanding the genetics of Rett syndrome can equip doctors, therapists, scientists, and parents with the insight they need to treat and manage the symptoms of Rett syndrome effectively.
The Rett Syndrome
Rett syndrome progresses in four stages, namely early onset, rapid destructive, plateau, and late motor decay. This disease has profound effects on the brain’s gray matter where most information processing occurs. Tremendous research has been done in attempting to understand the biology and genetics of Rett syndrome.
Understanding the Genetics of Rett Syndrome
Genetics plays a pivotal role in Rett syndrome. In over 95% of Rett syndrome cases, the disorder is caused by a mutation in a gene called MECP2 (methyl CpG binding protein 2). This gene is situated on the X-chromosome. Girls have two X-chromosomes, one from the mother and one from the father. Most girls with Rett syndrome get the mutation sporadically, that is, the mutation happens randomly, at conception, and is not inherited from either parent.
The MECP2 gene produces a protein, also called MECP2, that is crucial for the normal functioning of nerve cells. The MECP2 protein is involved in maintaining connections between nerve cells and modulating gene activity in the brain. A mutation in the MECP2 gene disturbs the protein’s function, which affects the normal development of the brain, causing Rett syndrome.
Symptoms of Rett Syndrome
The symptoms of Rett syndrome usually become apparent between six months and two years of life. Initially, the development may appear normal, but over time, girls with Rett syndrome start to lose their purposeful hand skills, such as the ability to grasp toys. They commonly develop repetitive, compulsive-like movements such as hand-wringing.
Other symptoms may include slow growth, difficulty walking, seizures and intellectual disability. Some girls with Rett syndrome may also have irregular breathing, scoliosis (an unusual curvature of the spine), and sleep problems. The severity of these symptoms can vary greatly among those with Rett syndrome, which suggests that additional genetic and environmental factors influence the condition.
Diagnosis of Rett Syndrome
The diagnosis of Rett syndrome is often based on the symptoms. However, diagnostic tests such as genetic testing can confirm the presence of a mutation in the MECP2 gene. Genetic testing can also help to identify other genetic disorders that cause similar symptoms to Rett syndrome.
Treatment of Rett Syndrome
There is currently no cure for Rett syndrome, but treatment can help manage the symptoms and improve the quality of life. Depending on the actual symptoms, different types of specialists such as neurologists, physiotherapists, and speech therapists might be involved in the treatment. Since the discovery of the MECP2 gene mutation, numerous research projects have been initiated worldwide to find ways to reverse the genetic changes. A significant advancement will be gene therapy which is at its experimental stage.
Conclusion
Our understanding of Rett syndrome has improved significantly since its first description. The discovery that mutations in the MECP2 gene cause most cases of Rett syndrome has led to the development of diagnostic tests as well as to the exploration of potential therapies. Moreover, it also highlighted how crucial the MECP2 protein is for the normal functioning of the brain. The advancement in gene therapy brings hope for the future, yet Rett syndrome remains a challenging condition. Continuous research and awareness are key in the quest to find a cure and to provide better ways to manage this disorder.
Frequently Asked Questions
1. Who does Rett syndrome affect?
Rett syndrome almost exclusively affects females. Males with a mutation in MECP2 are severely affected and usually die shortly after birth.
2. Can Rett syndrome be passed on to the next generation?
In most cases, Rett syndrome is not inherited or passed on to the next generation. The condition generally results from a new mutation that occurs randomly during the formation of reproductive cells.
3. Is there a cure for Rett syndrome?
Currently, there is no cure for Rett syndrome. However, treatments are available that can help manage symptoms.
4. Can boys have Rett syndrome?
While it is extremely rare, boys can have Rett syndrome. Since boys have only one X chromosome, those with the mutation in the MECP2 gene are more severely affected and usually die shortly after birth.
5. How common is Rett syndrome?
Rett syndrome is a rare condition, affecting approximately one in 10,000 to 15,000 live female infants.
