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Kearns‐Sayre syndrome: Unusual pattern of expression of subunits of the respiratory chain in the cerebellar system
Author(s) -
Tanji Kurenai,
Vu Tuan H.,
Schon Eric A.,
DiMauro Salvatore,
Bonilla Eduardo
Publication year - 1999
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/1531-8249(199903)45:3<377::aid-ana14>3.0.co;2-m
Subject(s) - kearns–sayre syndrome , neuroscience , medicine , genetics , biology , gene , mitochondrial dna
Kearns‐Sayre syndrome (KSS) is a sporadic multisystem disorder of oxidative phosphorylation associated with clonally expanded rearrangements of mitochondrial DNA (mtDNA). Mitochondrial dysfunction in the central nervous system of patients with KSS accounts for the neurological manifestations of the disease. To gain further insight into the pathogenesis of neuronal dysfunction in KSS, we used antibodies against mtDNA‐encoded and nuclear DNA–encoded subunits of the mitochondrial respiratory chain to study the expression of these proteins in the cerebellar cortex, dentate nucleus, and inferior olivary nucleus from 2 autoptic cases of KSS. Neuropathological examination showed a moderate loss of Purkinje cells and spongiform degeneration of the cerebellar white matter. By using immunohistochemistry, we found a decreased expression of mtDNA‐encoded proteins only in neurons of the dentate nucleus. We suggest that mitochondrial abnormalities in the dentate nucleus in conjunction with loss of Purkinje cells and spongiform degeneration of the cerebellar white matter may be important factors in the genesis of the cerebellar dysfunction in KSS. Ann Neurol 1999;45:377–383