Revealed protein mutation can help limit family heartache

Recent medical research on progressive myoclonus epilepsy (PME) has given neurologists more information about the heterogeneous group of disorders and seizures that are, so far, resistant to therapy.

“Although several causes of PME have been identified, the exact pathophysiology has remained largely unknown,” says Farrukh Abbas Chaudhry, co-author of a new Brain study¹ on PME. 

PME is characterized by muscle jerks, epileptic seizures, ataxia and cognitive decline. It is usually identified in the first years of life and may result in death or severe disability. 

During the research, conducted in Norway, Saudi Arabia and Egypt, scientists collected genetic tests on two brothers from Saudi Arabia, who are patients of PME, and their parents. They were able to find information on mutations that can help the scientists design better therapies in the future.

“By exome sequencing of the proband we identified a novel homozygous mutation in Potassium Channel Tetramerization Domain 7 (KCTD7) protein, which results in a truncated and misfolded protein,” explains Chaudhry. Chaudhry and his colleagues demonstrate how this misfolding of KCTD7 leads to neurons becoming unstable and “epileptic”. Consequently, communication between neurons is hampered leading to the development of PME.

“The identification of the mutations now allows us to offer this and other affected families pre-natal genetic testing so that only healthy children are born in the future,” says Chaudhry. 

“More research on KCTD7 and other related proteins may identify their involvement in other forms of epilepsy and/or other diseases.”

Sign-up to receive our e-alert update every two weeks to keep up with everything new on the portal.