28 Sep Teashirt Gene Links Kidney Disease and Autism Spectrum Disorders

MedicalResearch.com Interview with:

Prof. Adrian Woolf

Prof Adrian S. Woolf
Chair, Professor of Paediatric Science
University of Manchester, UK

MedicalResearch.com: What is the background for this study?

Response: Several years ago, Laurent Fasano discovered that the Drosophila teashirt gene was needed to pattern the body of embryonic flies.

He then found that this transcription factor had three similar genes in mammals.

Working with Adrian Woolf in the UK, they found that Teashirt-3 (Tshz3) was needed in mice to make muscle form in the ureter When the gene was mutated, mice were born with ureters that were ‘blown-up’ and they failed to milk urine from the kidney with the bladder.

MedicalResearch.com: What are the main findings?

Response: In the current report, Laurent Fasano’s research group then noted that the mutant mice also had autistic-like behaviours and Adrian Woolf, and other clinicians, identified people who had TSHZ3 gene deletions and autism spectrum disorders and several of these people were also born with abnormal kidneys.

The current study also discovered that the TSHZ3 is situated in a network of molecules implicated in differentiation of brain cortical neurons.

MedicalResearch.com: What should readers take away from your report?

• First, that a gene that is important in determining how our brain matures also controls the development of the kidney and renal tract.
• Second, if a person has both autism and a kidney problem, consider testing whether this gene is mutated.

MedicalResearch.com: What recommendations do you have for future research as a result of this study?

Response: We now need to determine exactly how the TSHZ3 gene controls the final differentiation of neurons in the brain. In turn this may lead to envisioning novel therapies for the autism.

MedicalResearch.com: Thank you for your contribution to the MedicalResearch.com community.

Citation:

Xavier Caubit, Paolo Gubellini, Joris Andrieux, Pierre L Roubertoux, Mehdi Metwaly, Bernard Jacq, Ahmed Fatmi, Laurence Had-Aissouni, Kenneth Y Kwan, Pascal Salin, Michèle Carlier, Agne Liedén, Eva Rudd, Marwan Shinawi, Catherine Vincent-Delorme, Jean-Marie Cuisset, Marie-Pierre Lemaitre, Fatimetou Abderrehamane, Bénédicte Duban, Jean-François Lemaitre, Adrian S Woolf, Detlef Bockenhauer, Dany Severac, Emeric Dubois, Ying Zhu, Nenad Sestan, Alistair N Garratt, Lydia Kerkerian- Le Goff, Laurent Fasano. TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons. Nature Genetics, 2016; DOI:10.1038/ng.3681

Note: Content is Not intended as medical advice. Please consult your health care provider regarding your specific medical condition and questions.

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Last Updated on September 28, 2016 by Marie Benz MD FAAD