Sodium Butyrate Stops Seizures in Child With GPI Deficiency
Treatment relieves suppression of PIGM gene
THURSDAY, April 20 (HealthDay News) -- Sodium butyrate can stimulate expression of the PIGM gene and may cause complete cessation of intractable seizures in patients with inherited glycosylphosphatidylinositol (GPI) deficiencies, according to a pediatric case study in the April 19 issue of the New England Journal of Medicine.
Antonio M. Almeida, M.D., Ph.D., of Imperial College London, U.K., and colleagues found that inherited GPI deficiencies can be caused by reduced PIGM expression due to a suppressive mutation in its promoter. The group then treated a 14-year-old girl with GPI deficiency and a history of seizures with sodium butyrate, a histone deacetylase inhibitor, in an effort to stimulate PIGM expression.
The authors found that sodium butyrate treatment of lymphoblastoid cells caused changes in histone acetylation at the PIGM promoter that correlate with gene activation. In the patient, sodium butyrate treatment caused an increase in PIGM mRNA levels by a factor of 70 and increased cell-surface GPI expression in whole blood.
Within two weeks of treatment, the seizures ceased, and the patient eventually began to walk, interact, and feed herself -- activities she had not done in two to three years. The authors concluded that sodium butyrate is of "great therapeutic value" and could be used in other diseases that are caused by suppressive mutations.