Open AccessClinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1
Author(s) -
Vanoli Fiammetta,
Rinchetti Paola,
Porro Francesca,
Parente Valeria,
Corti Stefania
Publication year - 2015
Publication title -
journal of cellular and molecular medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.44
H-Index - 130
eISSN - 1582-4934
pISSN - 1582-1838
DOI - 10.1111/jcmm.12606
Subject(s) - spinal muscular atrophy , medicine , respiratory distress , neuromuscular disease , genetic enhancement , disease , bioinformatics , atrophy , motor neuron , respiratory failure , pathology , gene , biology , surgery , genetics
Spinal muscular atrophy with respiratory distress ( SMARD 1) is an autosomal recessive neuromuscular disease caused by mutations in the IGHMBP 2 gene, encoding the immunoglobulin μ‐binding protein 2, leading to motor neuron degeneration. It is a rare and fatal disease with an early onset in infancy in the majority of the cases. The main clinical features are muscular atrophy and diaphragmatic palsy, which requires prompt and permanent supportive ventilation. The human disease is recapitulated in the neuromuscular degeneration ( nmd ) mouse. No effective treatment is available yet, but novel therapeutical approaches tested on the nmd mouse, such as the use of neurotrophic factors and stem cell therapy, have shown positive effects. Gene therapy demonstrated effectiveness in SMA , being now at the stage of clinical trial in patients and therefore representing a possible treatment for SMARD 1 as well. The significant advancement in understanding of both SMARD 1 clinical spectrum and molecular mechanisms makes ground for a rapid translation of pre‐clinical therapeutic strategies in humans.