How a rare disorder can lead to possible treatments for type 2 diabetes

A depiction of the molecule that mediates amino acid absorption in the intestine. The transporter is shown as a golden structure. The parts of the molecule that are mutated are shown in green, blue and red indicating different types of atoms.

Hartnup disorder is a rare disorder that is caused by an inability to absorb the breakdown products of protein digestion, namely amino acids. The disorder is named after the first reported case that showed symptoms similar to pellagra, a vitamin deficiency. Similar to vitamin deficiency, the disorder can be treated through good nutrition.

In 2004, Stefan Bröer’s laboratory discovered the gene that is mutated in Hartnup disorder, a so called transporter that mediates the absorption of amino acids in the intestine and kidney. Further research using a mouse model that replicates the disorder led to the discovery that reduced amino acid absorption can be used to improve metabolic disorders, such as type 2 diabetes and obesity.

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In 2017, we celebrate 50 years of Biology at ANU. This article is one of a set featuring the achievements and memorable occasions of ANU biologists those first 50 years.
Read more at Biology at ANU – the first 50 years.

Updated:  23 May 2017/Responsible Officer:  Director RSB/Page Contact:  Webmaster RSB