Findings from a recent study suggest that statins may be useful for the treatment of Retts syndrome. Although this news was welcomed by some, others have raised concerns that the conclusions were premature. Here we consider the implication of the current findings.
When it comes to research concerning statins, the area concerning the potential of statins to be beneficial in treatment of neurological diseases such as neurofibromatosis and fragile X syndrome is a growing field. This is to be expected, as the lipid serves many roles in the brain that play a part in normal and abnormal development such as dendrite remodelling, formation of myelin insulation and signal transduction.
Retts syndrome is a disorder that affects about one in 12 000 girls born in the UK each year, and its cause has been attributed to a genetic mutation. The key symptoms include loss of speech, hand wringing and loss of mobility. In addition to that, some patients develop digestive problems, start having seizures and have impaired breathing. Consequently, it is not uncommon for patients with Retts syndrome to require round-the-clock care from multiple professionals.
The study that has raised debates, was published in Nature Genetics, and was an animal study. Essentially, the researchers injected male mice with a chemical that mutates sperm stem cells. These mice were then put in cages with female mice that had Retts, where they eventually mated. The researchers then analysed the blood from the offspring for random gene mutations. Once the researchers had noted a gene known as Sqle, which affects lipid metabolism, they started to treat mice with statins. The key findings indicated that mice that had been treated had improved mobility, lived longer and generally had better health than the untreated mice. Based on this, the researchers suggested that more research needs to consider whether treatments that modulate lipid metabolism are useful for the treatment of Retts. However, they also cautioned that the key findings of the study were the underlying mechanism of the Sqle gene and that much research was needed before treatment of Retts with statins was viable.
We agree with the researchers, particularly as the current study was an animal trial. In addition to that, we feel that is necessary to establish whether the treatment of statins is viable in children (if so, at what dosage), and how it may interact with other treatments and co-morbidities.