Research on Limb-girdle Muscular Dystrophy 1F/D2 (hereafter LGMD D2) continues to advance and offer new hypotheses. On this occasion, the work of the University of Bologna team led by Professor Giovanna Cenacchi has been published in the leading scientific journal Frontiers in Neurology. The new review article aims to describe the clinical spectrum of LGMD D2 related to the TNPO3 gene. The aim of this publication is to present and compare the clinical features and the genetic and histopathological findings described in LGMD D2, making a comparative analytical description of all families and sporadic cases identified. Both the gene and the mutations that cause this disease have already been identified, but the pathogenic mechanism remains unknown; therefore, they present an overview of the hypotheses that could explain the pathology of LGMD D2 related to the TNPO3 gene. In addition, Professor Cenacchi’s research group is conducting the study of animal and cellular models of the disease that hold great promise for understanding the pathogenic mechanism underlying the disease. In particular, it appears that the TNPO3 mutation indirectly affects myogenesis regulatory factors.
Link to the article:
Costa R, Rodia MT, Pacilio S, Angelini C, Cenacchi G. LGMD D2 TNPO3-Related: From Clinical Spectrum to Pathogenetic Mechanism. Front Neurol. 2022 Mar 4;13:840683. doi: 10.3389/fneur.2022.840683. PMID: 35309568; PMCID: PMC8931187.