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2014 ; 6
(6
): 48
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Genetics and genomics of Parkinson s disease
#MMPMID25061481
Lin MK
; Farrer MJ
Genome Med
2014[]; 6
(6
): 48
PMID25061481
show ga
Parkinson's disease (PD) is a progressively debilitating neurodegenerative
syndrome. Although best described as a movement disorder, the condition has
prominent autonomic, cognitive, psychiatric, sensory and sleep components.
Striatal dopaminergic innervation and nigral neurons are progressively lost, with
associated Lewy pathology readily apparent on autopsy. Nevertheless, knowledge of
the molecular events leading to this pathophysiology is limited. Current
therapies offer symptomatic benefit but they fail to slow progression and
patients continue to deteriorate. Recent discoveries in sporadic, Mendelian and
more complex forms of parkinsonism provide novel insight into disease etiology;
28 genes, including those encoding alpha-synuclein (SNCA), leucine-rich repeat
kinase 2 (LRRK2) and microtubule-associated protein tau (MAPT), have been linked
and/or associated with PD. A consensus regarding the affected biological pathways
and molecular processes has also started to emerge. In early-onset and more a
typical PD, deficits in mitophagy pathways and lysosomal function appear to be
prominent. By contrast, in more typical late-onset PD, chronic, albeit subtle,
dysfunction in synaptic transmission, early endosomal trafficking and receptor
recycling, as well as chaperone-mediated autophagy, provide a unifying synthesis
of the molecular pathways involved. Disease-modification (neuroprotection) is no
longer such an elusive goal given the unparalleled opportunity for diagnosis,
translational neuroscience and therapeutic development provided by genetic
discovery.
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