The discovery of a pancreatic gene found to be specific to only humans and apes may aid in the understanding and treatment of type 1 diabetes.
The majority of genes known to be essential for organ development are usually present in all mammals. However, researchers have found that a gene, called ZNF808, is only found in humans and higher primates, including apes such as chimpanzees and gorillas, and in some monkeys, such as macaques. This finding, published in Nature Genetics, is crucial to understanding more about how the human pancreas develops.
'Our finding is really surprising' said Dr Elisa De Franco, lead author of the study at the University of Exeter Medical School, adding 'This is the only example we know of where a gene that is fundamental to the development of an organ in humans and primates is not present in other animals'
The pancreas is essential for producing a hormone called insulin. The insulin is produced in pancreatic cells called beta cells, and is responsible for regulating blood sugar. Patients with type 1 diabetes have no, or very few, functioning beta cells and require insulin treatment to regulate their blood sugar levels. Incorrect levels of insulin in the human body can result in serious health problems. Understanding more about human-specific pancreas development will help scientists to find ways of producing beta cells, to help cure type 1 diabetes.
The study involved researchers at the University of Exeter gathering DNA samples from patients who were born without a pancreas. By using a technique called whole exome sequencing, to read their DNA sequence, the authors discovered that all patients had a genetic change that resulted in the loss of ZNF808.
In collaboration with researchers at the University of Cambridge and Helsinki University, Finland, the researchers then went on to use stem cells in the laboratory to study the effect of when ZNF808 is lost. They discovered that ZNF808 helps cells decide whether to develop into a pancreas or a liver.
ZNF808 functions by helping 'switch off' specific regions of DNA in a controlled way.
'This research really emphasises the importance of studying the human pancreas in order to understand and find new treatments for diabetes' said Dr Nick Owens, from the University of Exeter Medical School, 'We know there are fundamental differences between humans and other animals, such as mice which are often the subject of research in this field. The human pancreas is different in how it looks, works and develops. Our genetic finding could help us understand why that's the case.
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