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Decreased hippocampal expression of calbindin D28K and cognitive impairment in MELAS.

Journal of the neurological sciences (2012-04-10)
Valentina Emmanuele, Angels Garcia-Cazorla, Hua-Bin Huang, Jorida Coku, Beatriz Dorado, Etty P Cortes, Kristin Engelstad, Darryl C De Vivo, Salvatore Dimauro, Eduardo Bonilla, Kurenai Tanji
ZUSAMMENFASSUNG

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a maternally inherited mitochondrial syndrome characterized by seizures, migrainous headaches, lactic acidosis, vomiting, and recurrent stroke-like episodes. Patients often suffer from cognitive dysfunction of unclear pathogenesis. In this study, we explored a possible link between cognitive dysfunction and hippocampal expression of calbindin D(28KD) (CB), a high affinity calcium-binding protein, in four MELAS patients, using post mortem hippocampal tissues. We found significantly reduced CB levels in all patients by immunohistochemistry, Western blot, and quantitative real-time PCR. Reduction in CB expression has been associated with aging and with neurodegenerative disorders, including Alzheimer's disease. We postulate that the reduced CB expression may play a role in the cognitive abnormalities associated with MELAS.