Novel gene therapy approach: inducing self-repair

9 May 2006

Prospects for a new form of gene therapy have been presented at the European Society of Human Genetics conference in Amsterdam. Rather than attempting to insert functional copies of a defective gene, a drug is being used to enhance innate genetic compensatory mechanisms to correct the cellular defect.

Researchers from the University of Cologne Institute of Genetics investigated the effects of an epilepsy drug called valproate in patients with spinal muscular atrophy (SMA), a relatively common inherited disease. Affected individuals lack a copy of the SMN1 gene; a second gene, SMN2, produces the same gene product (survival motor neuron protein, SMN) but at much lower levels. The severity of disease is decreased when there are additional copies of the SMN2 gene present, increasing overall SMN production. Valproate was found to raise SMN levels, and in twenty spinal muscular atrophy patients who received the drug, seven showed increased levels of SMN in their blood.

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