U.S. and Japanese scientists using mice say they have successfully restored normal levels of a key protein involved in the rare brain disorder lissencephaly.
The University of California-San Francisco scientists said they used protease inhibitors to achieve the restoration of the protein, a reduction of which causes lissencephaly, which is characterized by brain malformations, seizures, severe mental retardation and very early death in human infants.
The researchers said their accomplishment offers a proof-of-principle, at least in mice, that the genetic equivalent to human lissencephaly, also known as “smooth brain” disease, can be treated during pregnancy and effectively reversed to produce more normal offspring.
While the progress was reported in animal testing, the scientists said it’s significant in being the first successful attempt to use protease inhibitors to reverse a severe brain defect that is known to be caused by limited quantities of one key gene.
Dr. Anthony Wynshaw-Boris, chief of the UCSF Division of Genetics in the Department of Pediatrics, said the hope is the new approach also could be used to treat other defects in utero, or even those manifesting after birth, when caused by a partial deficiency in one gene.
The study that included Japanese scientists from Osaka City University, Kyoto University, the Japanese Institute for Integrated Cell Material Sciences, Fujita Health University and the University of Fukuiis is reported in the journal Nature Medicine.
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