iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early disease
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iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early disease
Mutations in PANK2 lead to neurodegeneration with brain iron accumulation. PANK2 has a role in the biosynthesis of coenzyme A (CoA) from dietary vitamin B5, but the neuropathological mechanism and reasons for iron accumulation remain unknown. In this study, atypical patient-derived fibroblasts were reprogrammed into induced pluripotent stem cells (iPSCs) and subsequently differentiated into cor...
متن کاملLayered hydrogels accelerate iPSC-derived neuronal maturation and reveal migration defects caused by MeCP2 dysfunction.
Probing a wide range of cellular phenotypes in neurodevelopmental disorders using patient-derived neural progenitor cells (NPCs) can be facilitated by 3D assays, as 2D systems cannot entirely recapitulate the arrangement of cells in the brain. Here, we developed a previously unidentified 3D migration and differentiation assay in layered hydrogels to examine how these processes are affected in n...
متن کاملMitochondrial Dysfunction in Neurodegeneration
The mitochondrial respiratory chain (RC) is responsible for providing most of the cellular energy in the form of ATP, and is also one of the main sites of reactive oxygen species (ROS) formation. The RC, consisting of five enzyme complexes in the inner mitochondrial membrane, is unique in its bipartite dependence on both nuclear and mitochondrial DNA (mtDNA). One example of this is mitochondria...
متن کاملTopic: Mitochondrial Dysfunction in Neurodegeneration
Neurodegenerative diseases such as Parkinson's disease (PD) are of growing public health concern in developed countries and the need for novel effective treatments continues to increase. Neurodegenerative diseases take many forms, reflecting the degeneration of different populations of neurons at different times from distinct causes, but many of them also share common features. Amongst the comm...
متن کاملA Novel Nonsense mutation in PANK2 Gene in Two Patients with Pantothenate Kinase-Associated Neurodegeneration
Pantothenate kinase- associated neurodegeneration (PKAN) syndrome is a rare autosomal recessive disorder characterized by progressive extrapyramidal dysfunction and iron accumulation in the brain and axonal spheroids in the central nervous system. It has been shown that the disorder is caused by mutations in PANK2 gene which codes for a mitochondrial enzyme participating in coenzyme A biosynthe...
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ژورنال
عنوان ژورنال: PLOS ONE
سال: 2017
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0184104