How are children’s lives affected now?

Alpers’ syndrome is caused by faults in a gene called POLG, which disrupts the function of mitochondria – the cell’s energy-generating powerhouses. Symptoms often appear between the ages of one and four years, and particularly affect organs that need a large amount of energy to function, such as the brain and liver.

“Children with Alpers’ syndrome will develop a range of debilitating symptoms, including prolonged seizures, progressive loss of developmental skills, and liver disease,” says Professor McFarland. “Sadly, there is no cure – and most will not survive beyond early childhood.”

Seizures can be very difficult to control and, if left unchecked, can cause neurological damage and shorten lives. Some epilepsy medications can also trigger liver failure in children with Alpers’ syndrome, further limiting safe and effective treatment options.

How could this research help?

“Our goal is to identify safe and effective new treatments that can help improve and extend the lives of children with Alpers’ syndrome,” says Professor McFarland.

The researchers have already identified a shortlist of both existing and new drugs that may help control seizures. They will now use patient skin cells to create advanced 3D cell models of the liver and brain, allowing them to rapidly test these treatments in the laboratory.

“We will firstly use the liver cells to check whether the treatments are safe – and then assess whether they can reduce seizure-like activity in the brain cells,” says Dr Laura Smith.

The team will also test new drug compounds that could help mitochondria work more effectively, assessing their safety and potential to slow or stop disease progression in liver and brain cells.

“In the future, our discoveries could also benefit children with other hard-to-treat forms of epilepsy, including those with other rare mitochondrial diseases,” says Professor McFarland. 

We do not provide medical advice. If you would like more information about a condition or would like to talk to someone about your health, contact NHS Choices or speak to your GP.