Which are the causes of Rett Syndrome?

Rett Syndrome is a rare genetic disorder that primarily affects females, occurring in approximately 1 in every 10,000 to 15,000 live births. It was first described by Austrian physician Dr. Andreas Rett in 1966. Rett Syndrome is characterized by a range of symptoms that typically become apparent between 6 and 18 months of age.

The primary cause of Rett Syndrome is a mutation in the MECP2 gene. This gene is responsible for producing a protein called methyl-CpG-binding protein 2, which plays a crucial role in the development and function of the brain. In most cases, the MECP2 gene mutation occurs randomly and is not inherited from the parents. However, in rare cases, it can be inherited from a parent who carries the mutated gene.

The MECP2 gene mutation affects the normal development of the brain and its connections. It leads to a disruption in the production of the methyl-CpG-binding protein 2, which in turn affects the expression of other genes involved in brain development and function. The exact mechanisms by which this mutation causes the specific symptoms of Rett Syndrome are still not fully understood, but ongoing research is shedding light on this complex disorder.

Rett Syndrome primarily affects girls due to its X-linked dominant inheritance pattern. Since females have two X chromosomes, one of which is randomly inactivated in each cell, they have a higher chance of compensating for the mutated MECP2 gene. In contrast, males who inherit the MECP2 mutation are more likely to experience severe developmental issues and do not typically survive beyond infancy.

While the MECP2 gene mutation is the primary cause of Rett Syndrome, there may be other genetic and environmental factors that contribute to the severity and variability of symptoms. Recent studies have identified other genes that can modify the effects of the MECP2 mutation, potentially explaining why individuals with the same mutation can exhibit different symptoms and disease progression.

It is important to note that Rett Syndrome is not caused by any actions or choices made by the parents or caregivers. It is a genetic disorder that occurs spontaneously and is not preventable.

In conclusion, Rett Syndrome is primarily caused by a mutation in the MECP2 gene, which disrupts normal brain development and function. The exact mechanisms by which this mutation leads to the specific symptoms of Rett Syndrome are still being investigated. While the MECP2 gene mutation is the main cause, other genetic and environmental factors may influence the severity and variability of symptoms. Rett Syndrome is a complex disorder that requires ongoing research to better understand its causes and develop effective treatments.