Regular ArticleNeuropathological features of mitochondrial disorders
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Cited by (75)
Mitochondrial disorders due to mutations in the mitochondrial genome
2020, Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease: Volume 1Pathophysiological characterization of MERRF patient-specific induced neurons generated by direct reprogramming
2019, Biochimica et Biophysica Acta - Molecular Cell ResearchCitation Excerpt :These studies concluded that the neuropathology of MERRF syndrome is characterized by neuronal loss and atrophy, demyelination and astrocytosis. These processes mainly occur in the cerebral cortex, the superior cerebellar peduncle, the dentate nucleus and Purkinje cells of the cerebellum and inferior olive, red nuclei and substantia nigra of the brainstem [76–79]. However, the underlying molecular mechanism responsible for the neuron vulnerability in MERRF syndrome remains unknown, and there are no studies about the morphology and structural features of neurons derived from MERRF patients.
Mechanisms of Mitochondrial DNA Deletion Formation
2019, Trends in GeneticsCitation Excerpt :While this threshold is dependent on the mutation itself, the affected cell, or tissue type, heteroplasmy levels can be between 60% and 90% for a detectable phenotype to be present [8]. Large deletions in the mtDNA are observed in patients with progressive external ophthalmoplegia (PEO), Kearns-Sayre syndrome, and Pearson’s syndrome [9–13]. They are invariably heteroplasmic and can vary in size from 1.8 to 8 kb [14,15].
Lack of age-related clinical progression in PGC-1α-deficient mice – implications for mitochondrial encephalopathies
2016, Behavioural Brain ResearchCitation Excerpt :These disorders are characterized by a relatively selective loss of neurons in different central nervous system (CNS) areas, corresponding to the leading clinical manifestations, in most of them with specific motor impairments. In addition, alterations of either nuclear or mitochondrial genome affecting mitochondrial functions at various levels are pathognomonic of a group of congenital multi-systemic diseases, collectively termed mitochondrial encephalopathies [5–8]. These diseases that include Kearns-Sayre syndrome (KSS), Leigh syndrome (LS), mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), myoclonic epilepsy with ragged-red fibers (MERRF), neuropathy, ataxia, retinitis pigmentosa (NARP), and mitochondrial neurogastrointestinal encephalopathy (MNGIE) generally present with a progressive symptomatology corresponding to the multi-systemic involvement of the brain, skeletal muscles, heart, and liver, among other less commonly affected organs [5–8].
Mitochondrial Encephalomyopathies
2015, Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician's ApproachMitochondrial Disorders Due to Mutations in the Mitochondrial Genome
2014, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition
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