neurofibromatosis: a recent advance

From NewScientist:

Neurofibromatosis type I (NF1) is a condition caused by a single gene defect that affects more than 1 in 3000 people. The defect is either inherited or caused by a spontaneous mutation, which can then be inherited.

NF1 causes developmental cognitive disabilities in up to half of those with the defective gene, including deficits in memory, motor coordination and spatial learning. It can also cause attention-deficit hyperactivity disorder (ADHD).

Previous mouse studies show the cognitive deficits result from the mutant gene causing over-production of a molecule called p21Ras. This leads to an imbalance between the signals that activate brain cells and those that inhibit them, creating problems in the cell-to-cell communication needed for learning.

Neurobiologist Alcino Silva and colleagues at the University of California, Los Angeles, US, tried a commonly prescribed cholesterol-lowering statin drug – called lovastatin – on adult mice with the NF1 mutation. In a series of experiments to test their cognitive functions, the team showed that the drug reversed the learning disabilities and brought the cognitive functions of the mice up to normal levels.

Three clinical trials are already FDA-approved.