Discovery could help lead to prevention of radical surgery for rare childhood disease
Hemimegalencephaly is a rare but dramatic condition of infancy in which half the brain is malformed and much larger than the other half. Its cause is unknown, but the current treatment is radical: the surgical disconnection and removal of the diseased half of the brain.
In a paper published in the June 24 online issue of the journal Nature Genetics, a team of doctors and scientists says mutations in a trio of genes that help regulate cell size and proliferation are likely culprits in causing the disorder, though perhaps not the only ones.
These mutations, known as de novo somatic mutations, are genetic changes in the cells of the brain. Because they are in non-sex organs, the mutations are not transmitted to the child by either parent. (more…)