Study identifies defect in sufferers' cells - that could be treated by existing medication

Scientists have discovered a defect in the cells of autism sufferers - and there are already two approved medications to combat it.

Autism is a common feature of a genetic disorder called tuberous sclerosis (TSC), occurring about 50 per cent of the time.

Despite years of studies geared towards targeting TSC, it remains incurable.

However, new research by the Boston Children's Hospital suggests this condition could be caused by a defect in the way cells recycle their mitochondria (the cell's 'battery').

The scientists further showed that two existing classes of drugs counter the defect: the epilepsy drug carbamazepine, and drugs known as mTOR inhibitors.

When treated, the dysfunctional neurons were able to clear damaged mitochondria and replenish healthy mitochondria, restoring a normal turnover.

The scientists believe the study, published by Cell Reports, open new treatment possibilities not just for TSC, but for other forms of autism and neurologic disorders.

'Our findings point to possible treatments for enhancing mitophagy for some neurodevelopmental and neurodegenerative diseases,' says lead researcher Dr Mustafa Sahin, director of the Translational Neuroscience Center at Boston Children's Hospital.

Through a process known as autophagy ('self-eating'), cells digest their damaged or aging mitochondria, clearing the way for healthy replacements.

It was research into this procedure - autophagy - that earned a Nobel Prize this year.

But as Dr Sahin showed with co-first authors Dr Darius Ebrahimi-Fakhari and medical student Afshin Saffari, autophagy does not happen as it should do in many autism sufferers.

It is not the first time scientists have analyzed autophagy in patients with neurological diseases.

Research has shown issues with autophagy in people with Parkinson's disease and Alzheimer's disease.

But this is the first study that connects autism sufferers to the same defect.

Dr Sahin said it has taken this long to reach this point because the autism population is diverse and hard to define.

'We decided to use tuberous sclerosis, a genetically defined disorder that has a high incidence of autism, as a model to understand the role of mitochondrial dynamics,' Dr Sahin explained.

To reach their conclusion, the team studied rat neurons and patient-derived neurons affected by TSC.

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