Parkin and PINK1 parkinsonism may represent nigral mitochondrial cytopathies distinct from Lewy body Parkinson's disease
نویسندگان
چکیده
منابع مشابه
PINK1-linked parkinsonism is associated with Lewy body pathology.
Phosphatase and tensin homolog-induced putative kinase 1 gene mutations have been associated with autosomal recessive early-onset Parkinson's disease. To date, no neuropathological reports have been published from patients with Parkinson's disease with both phosphatase and tensin homolog-induced putative kinase 1 gene copies mutated. We analysed the coding region of phosphatase and tensin homol...
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A clear pathologic hallmark like that identified in sporadic Parkinson’s disease (PD) is lacking in many of the monogenic causes of PD. In leucine-rich repeat kinase 2 (LRRK2) mutations (PARK8), alpha-synuclein pathology in the form of Lewy bodies (LBs) is frequently, but not consistently, observed. Other pathologies reported in LRRK2 cases include tau inclusions of the Alzheimer, progressive s...
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Parkinson's disease (PD) is one of the most frequent neurodegenerative disease caused by the preferential, progressive degeneration of the dopaminergic (DA) neurons of the substantia nigra (SN) pars compacta. PD is characterized by a multifaceted pathological process involving protein misfolding, mitochondrial dysfunction, neuroinflammation and metabolism deregulation. The molecular mechanisms ...
متن کاملPink1, Parkin, DJ-1 and mitochondrial dysfunction in Parkinson's disease.
Mutations in PARKIN, PTEN-induced kinase 1 (PINK1) and DJ-1 are found in autosomal recessive forms and some sporadic cases of Parkinson's disease. Recent work on these genes underscores the central importance of mitochondrial dysfunction and oxidative stress in Parkinson's disease. In particular, pink1 and parkin loss-of-function mutants in Drosophila show similar phenotypes, and pink1 acts ups...
متن کاملParkinsonism due to mutations in PINK1, parkin, and DJ-1 and oxidative stress and mitochondrial pathways.
Three genes have been identified that cause, in humans, autosomally inherited parkinsonism. These are PARK2, encoding the E3 ubiquitin ligase parkin; PINK1, a mitochondrial kinase; and PARK7, which codes for the protein DJ-1. In several experimental systems, it has been shown that all three proteins impact mitochondrial function and/or oxidative stress responses. These are probably related beca...
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ژورنال
عنوان ژورنال: Parkinsonism & Related Disorders
سال: 2009
ISSN: 1353-8020
DOI: 10.1016/j.parkreldis.2009.09.010