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Leigh syndrome: neuropathology and pathogenesis
Nicole J Lake1, Matthew J Bird, Pirjo Isohanni
1From the Murdoch Children's Research Institute, The Royal Children's Hospital (NJL, MJB); and Department of Paediatrics (NJL, MJB) and Center for Neural Engineering, Department of Electrical and Electronic Engineering (MJB), The University of Melbourne, Melbourne, Victoria, Australia; Research Programs Unit, Molecular Neurology Biomedicum-Helsinki (PI), University of Helsinki; and Department of Child Neurology (PI), Children's Hospital, Helsinki University Central Hospital and University of Helsinki, Helsinki, Finland; and Department of Pathology, HUSLAB (AP), Helsinki University Central Hospital and University of Helsinki, Helsinki, Finland.
Leigh syndrome (LS), a pediatric mitochondrial disease, involves brain lesions and hyperlacticacidemia. Pathogenesis likely involves ATP depletion, gliosis, and oxidative stress, guiding future LS treatments.
Area of Science:
- Neuroscience
- Mitochondrial Biology
- Pediatric Neurology
Background:
- Leigh syndrome (LS) is the primary pediatric manifestation of mitochondrial disease.
- LS is characterized by progressive encephalopathy with specific brainstem and basal ganglia lesions.
- The genetic basis of LS is heterogeneous and not fully elucidated, complicating research.
Purpose of the Study:
- To review the pathology of Leigh syndrome.
- To explore potential molecular mechanisms underlying LS pathogenesis.
- To provide insights into lesion development in LS.
Main Methods:
- Review of patient samples.
- Analysis of animal models of LS.
- Examination of studies on hypoxic-ischemic encephalopathy.
Main Results:
- LS pathology includes gliosis, vacuolation, and capillary proliferation.
- Hyperlacticacidemia is a key biochemical marker in LS.
- Proposed pathogenic mechanisms include ATP depletion, gliosis, hyperlacticacidemia, reactive oxygen species, and excitotoxicity.
Conclusions:
- Severe ATP depletion, gliosis, hyperlacticacidemia, ROS, and excitotoxicity are suggested contributors to LS neuropathogenesis.
- Understanding LS molecular mechanisms is crucial for developing effective treatments.
- Further research is needed to fully elucidate the complex pathogenesis of Leigh syndrome.
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