Cellular and Molecular Basis of Alkaptonuria

Dear Colleagues,

Alkaptonuria (AKU) is an ultra-rare disease associated with the low activity of homogentisate 1,2-dioxygenase (HGD), which catabolizes homogentisic acid (HGA), due to HGD mutations, but with no clear genotype–phenotype correlation. In AKU, HGA is not metabolized, and it accumulates as a pigment in connective tissues, causing oxidative stress-mediated tissue and organ degeneration followed by disability and pain in patients. Such is the need for further research into this disease that the first therapeutic intervention based on nitisinone has been only recently implemented.

Multidisciplinary approaches combining genetic analysis, in silico studies, molecular modelling, cell, tissue and animal models, cell biology, biochemistry and post-genomics, histopathology, bioinformatics, AI and analytical chemistry complemented by clinical data have provided novel relevant insights into AKU’s molecular mechanisms, showing how AKU is a very complex disease with a range of AKU-associated comorbidities.

The Special Issue aims to comprehensively integrate the broad range of all the multidisciplinary data so far collected and to present novel relevant data on AKU’s pathophysiology, alongside the biomarkers discovered for prognosis and diagnosis, therapeutic targets and clinical monitoring, thus providing tools for physicians and researchers and creating a pathway towards a precision medicine approach.

AKU may be seen as a model disease sharing features with other inflammatory and chronic diseases. Therefore, contributions from scientists conducting research into cellular, molecular and clinical data that can provide useful novel clues for investigations into AKU will also be welcome.

Prof. Dr. Annalisa Santucci
Prof. Dr. Ottavia Spiga
Prof. Dr. Daniela Braconi
Dr. Giulia Bernardini
Guest Editors

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