Mitochondrial dysfunction in iPSC-derived neurons of subjects with chronic mountain sickness

• Published in: Journal of applied physiology (1985) Vol. 125; no. 3; pp. 832 - 840
• Main Authors: Zhao, Helen, Perkins, Guy, Yao, Hang, Callacondo, David, Appenzeller, Otto, Ellisman, Mark, La Spada, Albert R., Haddad, Gabriel G.
• Format: Journal Article
• Language: English
• Published: United States American Physiological Society 01.09.2018
• Subjects: Adenosine Triphosphate - metabolism; Adult; Altitude Sickness - physiopathology; Atrophy; Caspase; Caspase 3 - metabolism; Caspase-3; Cell death; Cell Hypoxia; Chronic Disease; Chronic illnesses; Cristae; Cytology; Fusion protein; Gene expression; GTP Phosphohydrolases - metabolism; Humans; Hypoxemia; Hypoxia; Induced Pluripotent Stem Cells - metabolism; L-Lactate dehydrogenase; L-Lactate Dehydrogenase - metabolism; Lactate dehydrogenase; Lactic acid; Male; Mitochondria; Mitochondria - metabolism; Mitochondria - pathology; Mitochondria - ultrastructure; Mitochondrial Diseases - metabolism; Mitochondrial Diseases - physiopathology; Mitochondrial Dynamics; Morphology; Neural Stem Cells - metabolism; Neurons; Optic atrophy; Pluripotency; Polycythemia; Stem cells; Transmission electron microscopy; neuron; mitochondrial dysfunction; OPA1; chronic mountain sickness

Patients with chronic mountain sickness (CMS) suffer from hypoxemia, erythrocytosis, and numerous neurologic deficits. Here we used induced pluripotent stem cell (iPSC)-derived neurons from both CMS and non-CMS subjects to study CMS neuropathology. Using transmission electron microscopy, we report t...