Antonella Tramutola, Hannah S Bakels, Federica Perrone, Michela Di Nottia, Tommaso Mazza, Maria Pia Abruzzese, Martina Zoccola, Sara Pagnotta, Rosalba Carrozzo, Susanne T de Bot, Marzia Perluigi, Willeke M C van Roon-Mom, Ferdinando Squitieri
BACKGROUND: Paediatric Huntington disease with highly expanded mutations (HE-PHD; >80 CAG repeats) presents atypically, compared to adult-onset Huntington disease (AOHD), with neurodevelopmental delay, epilepsy, abnormal brain glucose metabolism, early striatal damage, and reduced lifespan. Since genetic GLUT-1 deficiency syndrome shows a symptom spectrum similar to HE-PHD, we investigated the potential role of the two main glucose transporters, GLUT-1 and GLUT-3, in HE-PHD. METHODS: We compared GLUT-1 and GLUT-3 protein expression in HE-PHD, juvenile-onset (JOHD), and AOHD brains (n = 2; n = 3; n = 6) and periphery (n = 3; n = 2; n = 2) versus healthy adult controls (n = 6; n = 6)...
October 26, 2023: EBioMedicine