Essay about Parkinson’s Disease - 1304 Words

Introduction/background Parkinson’s disease (PD) is the most frequent movement disorder and the second most common neurodegenerative disease (Bueler 2009). Over 1% of the entire population over the age of 60, and up to 5% of age 80, is affected by PD (Wood-Kaczmar, Gandhi et al. 2006). The pathogenesis of PD remains unclear, but can be categorized as sporadic, being the most common form, and Mendelian, which accounts for 5-10% of all PD cases (Guo 2008). The studies of Mendelian onset of PD have lead to the identification of five genes being linked to this neurodegenerative disease (Guo 2008). ÃŽ ±-Synuclein (SNCA) and Leucine-rich repeat kinase 2 (LRRK2) mediate autosomal dominant forms of PD. PTEN-induced putative kinase 1 (PINK1),†¦show more content†¦These genes have become a central theme in PD pathogenesis and may hold the key to future novel therapeutics. Using Drosophila as the study model, the Guo lab have shown PINK1 mutants exhibit vacuolations in mitochondria and aggregations of PINK1 proteins to nebenkerns, a large spherical structure composed of two intertwined mitochondria essential for proper spermatogenesis in Drosophila (Deng, Dodson et al. 2008). The Guo lab have also shown null PINK1 flies exhibit phenotypes similar to that of sporadic PD: male sterility, held-up wings due to muscle defects, features of apoptosis, reduced ATP/mtDNA, cristae fragmentation, and vacuolations of the mitochondria. From epistatic studies, the over expression of PARKIN in PINK1 mutant models caused rescue of mitochondrial defects associated to PINK1 mutants indicating the two genes are utilized in a common pathway. The reverse rescue, over expression of PINK1 to PARKIN mutants, did not show any improvement in the mutant phenotype and is suggestive that PINK1 is upstream from PARKIN (Dodson and Guo 2007). The Guo lab has also shown that the expression of human PINK1 in Drosophila PINK1 mutants restored mitochondrial defects and fertility; suggesting studies into PINK1 m ay be relevant to humans. The Guo lab also demonstrated that a downstream effectShow MoreRelatedThe Parkinsons Disease1596 Words   |  6 PagesMany people around the world today suffer from Parkinson’s disease and other movement disorders. A movement disorder is a disorder impairing the speed, fluency, quality, and ease of movement. There are many types of movement disorders such as impaired fluency and speed of movement (dyskinesia), excessive movements (hyperkinesia), and slurred movements (hypokinesia). Some types of movement disorders are ataxia, a lack of coordination, Huntingtons disease, multiple system atrophies, myoclonus, briefRead MoreThe Parkinsons Disease761 Words   |  3 PagesMathur states that â€Å"Genetics loads the gun, environment pulls the trigger† (Mathur). 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It is common for patients with PD to have motor symptoms such as gait disorder, which comes from muscle stiffness/rigidity, bradykinesia, postural imbalance, etc. Gait disorders can generally help determine how far the neurological disorder has affected the motor function and control of the individual. Many physicians in general c linics determine if a patient has PD or if it has