- Florey researchers have found evidence of a possible link between gut bacteria and the brain-related symptoms in neurofibromatosis type 1 (NF1). Their study is the first to investigate a potential link.
- NF1 is an inherited condition that affects multiple body systems and increases the risk of tumour formation. NF1 can also result in cognitive and behavioural difficulties, including autism and ADHD.
- The researchers found significant differences in gut microbiota in mice with NF1, particularly in males. NF1 mice also had enlarged brains and displayed autism-like behaviour and differences in cognition.
A new study from The Florey Institute of Neuroscience and Mental Health suggests therapies targeting gut bacteria could in the future help people with an inherited condition who have learning and behavioural difficulties, including autism and ADHD.
While one in 3000 people are born with neurofibromatosis type 1 (NF1), the severity of physical and cognitive symptoms varies greatly between those affected.
In many cases, NF1 is associated with learning, thinking and behavioural difficulties, anxiety and depression. More than a third of children with NF1 have autism and about four in 10 have ADHD.
In findings published in Molecular Psychiatry, Florey researchers have uncovered significant changes in gut microbiota in a NF1 mouse model compared to mice without the NF1 gene mutation, suggesting a potential link between the gut and brain in NF1.
Lead researcher Dr Sonali Reisinger said the study was the first to investigate and find a possible connection between gut bacteria and brain-related symptoms of NF1.
“Our NF1 mice displayed differences in their cognition and behaviour compared to mice without NF1. They also had larger brains, a common feature of people with NF1,” Dr Reisinger said.
“Crucially, we also observed changes in their gut bacteria which suggests that gut microbiota could be an important new area to study for NF1.”
In male mice in particular, certain groups of bacteria were changed in ways that partly overlap with findings from clinical and preclinical autism research.
Head of The Florey’s Epigenetics and Neural Plasticity Group, Professor Anthony Hannan, said this new discovery from his team identified the gut-brain axis as a novel therapeutic target for NF1.
“Recent research has focused on whether bacteria in the gut might be involved in brain conditions, but this has not been studied in NF1 until now,” Professor Hannan said.
“Our new findings add to mounting evidence about the connection between the brain and gut.
“If we can replicate this study in humans, it paves the way for potential new therapies to help people living with NF1-related cognitive and behavioural difficulties, including autism and ADHD.”
The research was supported by a research funding grant from the Flicker of Hope Foundation. Flicker of Hope was established in 2018 as a registered ACNC charity to raise funds for vital medical research into neurofibromatosis. The charity directs 100 per cent of donations received to research, bringing hope to all those impacted by NF.


