University of Portsmouth scientists use tadpoles to identify genetic disease in children

Researchers from the universities of Portsmouth and Southampton found changes in a gene called coat protein complex 1 (COPB1) were behind the genetic defect which caused the condition – which currently has no name - which can lead to delayed intellectual development and early onset of cataracts.

The research team used tadpoles to mimic human gene variants from the DNA of the affected patients and their family members to identify the source of the condition.

They found that tadpoles with the COPB1 gene changes had smaller brains than the control tadpoles and many of them had cataracts, just like the patients.

Professor Matt Guille, from the University of Portsmouth and co-author of the study published in the journal Genome Medicine, said: ‘This is the first time the tadpole has been used in such a direct way to help solve a clinical challenge.

‘In our initial experiments to test the link between a genetic variation and a disease we found to our surprise that by altering the DNA of tadpoles, four times out of five we could recreate the disease-related changes seen in human patients.’

The study also highlighted infants with the condition had a defect which resulted in babies with the condition having smaller heads when compared to babies of the same sex and age – findings which were also borne out in the tadpole study.

The scientist now hope the findings can be used by clinicians to target interventions to help patients and their families, also opening the door to screening and prenatal diagnosis.

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Professor Guille added: ‘This will allow us to support our colleagues in providing a more timely, accurate diagnosis that patients and their families so desperately need.’

The professor stressed that while studies connecting a gene and a disease were mainly performed in mice, several labs have recently shown that experiments in tadpoles can also provide very strong evidence about the function of variant human genes.

Co-author Diana Baralle, professor of genomic medicine and a clinical geneticist at the University of Southampton, added: ‘Next generation sequencing is transforming our ability to make new diagnoses and discover new causes for rare disorders.

‘This story started with sisters I saw in clinic without a known underlying cause for their signs and symptoms.

‘Looking closely at their genes we saw that this was a new previously undescribed syndrome. A diagnosis is so important to the family.’

A message from the Editor, Mark Waldron

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