Breakthrough in the study of Huntington's disease: an alteration in the pediatric HD is not present in the adult HD
GLUT-1, a protein that transports sugars into human tissue cells, is deficient in the brain and peripheral tissues of children with Huntington's disease, but not in adults.
Breakthrough in the study of Huntington's disease: an alteration in the pediatric HD is not present in the adult HD
Our brain consumes over a quarter of the energy needed to make our entire body function, translated into approximately 200-300 kilocalories per day. Without sugars, it would not be able to function properly and support very important functions such as the activity of neurons and the processing of information.
GLUT-1, a protein that transports sugars into human tissue cells, is deficient in the brain and peripheral tissues only of children with Huntington's disease, while it is perfectly present in adults with the same disease.
This important laboratory finding arises from an intuition gained in clinical practice because GLUT1 is also responsible for another disease - the "GLUT-1 deficiency syndrome" - which generates mental delay and epilepsy in children, just like it happens in children with HD.
The LIRH Foundation launched the 'Huntington Space' (A Place for Children) program a few years ago, specifically dedicated to minors at risk of inheriting this rare disease, opening the clinics to HD minors.
The study has just been published in the prestigious Lancet journal eBioMedicine.
It is the result of an international multi-centre collaboration, coordinated by Ferdinando Squitieri, Scientific Director of the Lega Italiana Ricerca Huntington Foundation in Rome and Head of the Huntington and Rare Diseases Unit of the IRCCS Casa Sollievo of Sofferenza, research hospital founded by Saint Pio.
The laboratories of the Sapienza University (Rome), the Bambino Gesù Pediatric Hospital (Rome) and the University Medical Center (Leiden, The Netherlands), which shared brain tissue samples with the LIRH Foundation were involved in the study.
“Having identified that this alteration is present only in children with HD, which previously we didn't know, gives us the opportunity to look for the best strategies able to compensate for the deficiency of the Glut1 protein. This will give hope to all the families involved ” states Ferdinando Squitieri.
Pediatric Huntington's disease (PHD) is usually inherited from the affected father.
The evolution of physical and mental disability is very rapid and is accompanied by severe epileptic manifestations.
We hope that this important finding will contribute to opening up further experimental and therapeutic possibilities even for the youngest HD patients.
"This study demonstrates how important clinical research for rare diseases is and how much it deserves to be supported " - declares Barbara D'Alessio, President and Executive Director of the LIRH Foundation.