Microangiopathy in the cerebellum of patients with mitochondrial DNA disease.

Brain : a Journal of Neurology
Nichola Z LaxDoug M Turnbull

Abstract

Neuropathological findings in mitochondrial DNA disease vary and are often dependent on the type of mitochondrial DNA defect. Many reports document neuronal cell loss, demyelination, gliosis and necrotic lesions in post-mortem material. However, previous studies highlight vascular abnormalities in patients harbouring mitochondrial DNA defects, particularly in those with the m.3243A>G mutation in whom stroke-like events are part of the mitochondrial encephalopathy lactic acidosis and stroke-like episodes syndrome. We investigated microangiopathic changes in the cerebellum of 16 genetically and clinically well-defined patients. Respiratory chain deficiency, high levels of mutated mitochondrial DNA and increased mitochondrial mass were present within the smooth muscle cells and endothelial cells comprising the vessel wall in patients. These changes were not limited to those harbouring the m.3243A>G mutation frequently associated with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes, but were documented in patients harbouring m.8344A>G and autosomal recessive polymerase (DNA directed), gamma (POLG) mutations. In 8 of the 16 patients, multiple ischaemic-like lesions occurred in the cerebellar cortex suggestive ...Continue Reading

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Citations

Dec 1, 2012·Journal of Neurology·Henriette J TschampaCornelia Kornblum
Mar 20, 2015·Neuropathology and Applied Neurobiology·Nichola Z LaxDoug M Turnbull
Feb 19, 2014·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·M PrasadC Prasad
Jun 12, 2016·Neuropathology and Applied Neurobiology·N Z LaxD M Turnbull
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Apr 29, 2015·Neuroscience Letters·Haiyan Zhu, Qunxing Ding
Feb 22, 2018·Clinical Neuroradiology·Yuxin LiLiqin Yang
May 24, 2020·Annals of Neurology·Cesar A P F AlvesGiulio Zuccoli
Feb 2, 2018·Psychosomatic Medicine·Martin Picard, Bruce S McEwen
Jul 6, 2017·Journal of Clinical Medicine·Rahul Phadke
Dec 12, 2019·Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova·L A KalashnikovaM S Legenko
Sep 5, 2015·Neuropathology and Applied Neurobiology·Alexia ChrysostomouNichola Z Lax
May 26, 2017·Journal of Magnetic Resonance Imaging : JMRI·Yuxin Li, Jie Lin

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Methods Mentioned

BETA
electron microscopy
dissection
PCR
biopsies

Software Mentioned

GraphPad Prism®
AxioVision
ImageJ

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