Abnormal mitochondrial transport and morphology as early pathological changes in human models of spinal muscular atrophy

• Published in: Disease models & mechanisms Vol. 9; no. 1; pp. 39 - 49
• Main Authors: Xu, Chong-Chong, Denton, Kyle R, Wang, Zhi-Bo, Zhang, Xiaoqing, Li, Xue-Jun
• Format: Journal Article
• Language: English
• Published: England The Company of Biologists Ltd 01.01.2016; The Company of Biologists
• Subjects: Acetylcysteine - chemistry; Amyotrophic lateral sclerosis; Animals; Biological Transport; Caspase 3 - metabolism; Caspase 7 - metabolism; Cell Differentiation; Cells, Cultured; Disease; Disease Models, Animal; Fibroblasts; hESCs; Human embryonic stem cells; Humans; Induced pluripotent stem cells; Induced Pluripotent Stem Cells - cytology; iPSCs; Karyotyping; Membrane Potentials; Mice; Mice, SCID; Mitochondria; Mitochondria - pathology; Mitochondrial DNA; Mitochondrial transport and morphology; Morphology; Motor Neurons - pathology; Muscular Atrophy, Spinal - pathology; Mutation; Neuromuscular diseases; Neurons; Polymerase Chain Reaction; Prosencephalon - physiopathology; Proteins; Spinal muscular atrophy; Stem cells; Human embryonic stem cells; iPSCs; hESCs; Induced pluripotent stem cells; Mitochondrial transport and morphology; Spinal muscular atrophy

Spinal muscular atrophy (SMA), characterized by specific degeneration of spinal motor neurons, is caused by mutations in the survival of motor neuron 1, telomeric (SMN1) gene and subsequent decreased levels of functional SMN. How the deficiency of SMN, a ubiquitously expressed protein, leads to spin...