DJ-1 Genetic Essay

The discovery from the Scripps Research Institute in Florida shows promising results in tackling down the cause of Parkinson’s, and their outcomes led to a funding by the National Institutional Disorders and Stroke Research (NINDS). Research staff within the campus discovers that many diseases that relate in twisting a protein from its original structure will result in a cellular death but it isn’t due to the deformed shape. According to the article “Scripps Florida Scientists' 'Mad Cow' Discovery” (2015), one primal cause that leads to Parkinson’s is the lack of “NAD+” which later prohibits the proper energy function of the mitochondria. Researchers further delved into the study to find out this is preventable, by providing the misshaped protein

AD is a progressive age-related neurodegenerative disorder that poses increasing challenges to the global healthcare system and economic development. AD is characterized by extracellular neurotic plaques composed of Aβ deposits and intracellular neurofibrillary tangles composed of hyperphosphorylated tau with progressive loss of synapses in the brain [1]. Evidence demonstrates a potential link between oxidative stress, mitochondrial dysfunction and AD development [2]. Oxidative damage has been known to occur at a very early stage of AD even prior to Aβ plaque formation and the onset of symptoms [3, 4, 5]. Several cellular changes by oxidative stresses have been related with Aβ plaques formation and pathophysiological events of AD [6].

PINK1, encoded by the PINK1 gene, is a part of “quality control” of the mitochondria It finds mitochondria that has been damaged and marks them for autophagy; the controlled digestion of an organelle, in this case, the damaged mitochondria. PINK1 can be taken in and out by healthy mitochondria because of a membrane potential, but damaged mitochondria lack an adequate membrane potential to take in PINK1 protein. The protein will then collect on the outer membrane of the damaged mitochondria, at which point PINK1 will then enlist parkin, another protein associated with Parkinson’s disease, to target the mitochondria for autophagy. The function of PINK1 is not completely known, but because of it’s presence throughout the cytoplasm of cells, a suggestion of the function of PINK1 is to be a lookout for damaged

Parkinson’s Disease (PD) is a common idiopathic neurologic disease that affects nearly 1-2% of individuals over the age of 50. It is a slowly progressive disease with a life expectancy of 15 years following the initial diagnosis (Duffy, 2013). Having relatives diagnosed with PD increases the likelihood of being diagnosed with PD. In fact, one third of individuals with two or more relatives diagnosed with PD will likely acquire the disease (Duffy, 2013). Other possible causes may include unidentified environmental toxins, such as herbicides and pesticides.

Some experts believe this disease is related to the inhalation of pesticides, while others believe it results from the inhalation of chemical elements such as copper, lead, or manganese. It has been linked to heredity. It is believed that 15% of those diagnosed with the disease have a family history of the mutated gene. Scientists believe there are two types of carriers for this gene that determines a diagnosis of Parkinson’s Disease. The first type of carrier guarantees a diagnosis, whereas the second type of carrier only increases the chance of being diagnosed. This theory has yet to be

Ketone bodies appear to have a conceivable neuroprotective role in NDD by decreasing oxidative stress through reducing ATP production via indirect inhibition, changing mitochondrial energy metabolism by altering cellular communication, increasing antioxidant activity and reducing neuronal death (Gano, Patel, Rho 2014). Interest in investigating the probable connection between ketone bodies produced via KD and oxidative stress and mitochondrial dysfunction is on the rise. Next, a review of three current original studies exploring ketone bodies effect on the progression of several of the most notable NDD’s: AD, PD, and ALS, respectively.

Identified as LRRK2, this gene mutation only accounts for one to two percent of all cases of Parkinson’s disease. (Michael J. Fox Foundation)

Leucine-Rich Repeat Kinase 2 is associated with several diseases, such as cancer, inflammatory bowel disease and multibacillary leprosy, but has its clearest link with Parkinson's disease (Cogo, Greggio & Lewis, 2017). Up to now, several PD-associated autosomal dominant mutations in LRRK2 have been discovered, including G2019S, R1441C/G/H, Y1699C, I2020T and N1437H, indicated in figure 2. Of these mutations, which all entail amino acid

The major component shared by both Parkinson’s disease and dementia is the functioning of neurons, with a then understandable association. Dementia is caused by neuron demise or diminished capacity of communication with other cells, while Parkinson’s disease, neurons in the basal ganglia experience deterioration that disrupts the normal neurotransmitter dopamine balance where neurons waste and die. With this shared neuron deterioration, the prevalence of dementia associated with Parkinson’s disease is clearly understood. One-third of all patients with Parkinson’s disease will display dementia (LeMone, Burke, & Bauldoff, 2011) with indicators identical to Alzheimer’s form of dementia.

The path physiology of Parkinson’s disease is the pathogenesis if Parkinson disease is unknown. Epidemiologic data suggest genetic, viral, and environmental toxins as possible

Parkinson disease (PD) is a progressive neurodegenerative disorder characterized mainly by physical and psychological disabilities. This disorder was named after James Parkinson, an English physician who first described it as shaking palsy in 1817 (Goetz, Factr, and Weiner, 2002). Jean- Martin Charcot, who was a French neurologist, then progressed and further refined the description of the disease and identified other clinical features of PD (Goetz, Factr, and Weiner, 2002). PD involves the loss of cells that produce the neurotransmitter dopamine in a part of the brain stem called the substansia nigra, which results in several signs and symptoms (Byrd, Marks, and Starr, 2000). It is manifested clinically by tremor,

The chief neurotransmitter—or carrier of nerve signals—in this area of the brain is dopamine, which is deficient in people who have Parkinson's. The cause of this deficiency is not known, but research suggests that several factors may reinforce each other to produce Parkinson's disease. There may be a genetic predisposition for some forms of the disease—between 15 and 20 percent of people with Parkinson's are closely related to an individual who displays the disease's characteristic symptoms. In 1996 scientists identified a gene associated with a rare form of Parkinson's disease. Genetic predisposition may be limited only to rare forms of the disease, however. A 1999 study found that the most common form of Parkinson's disease is not inherited, suggesting that exposure to certain environmental agents may be a primary cause.

The onset for Parkinson’s disease is progressive and increases as age increases. It commonly develops in patients around the 50 years of age and the prevalence is 4% to 5% in patients older than 85 years of age. Kluwer (2015) Based on the etiology, Parkinson’s disease is considered to be a nonhereditary disorder, however there is evidence that the environmental factors may contribute to some etiologic associations. The associated environmental risk factors include expo¬sure to well water, pesticides, herbicides, industrial chemicals, wood pulp mills, fanning, and rural resi¬dence. Moreover, there is evidence that genetics may play a major factor in Parkinson’s disease. According to Nolden, et al.’s (2014), a gene mutation called alpha-synuclein

Parkinson disease (PD) is a common neurodegenerative disease with unknown etiology. PD is commonly referred to as a “motor disease,” reflecting its clinical symptoms, including resting tremors of extremities, muscular rigidity, shuffling gait, stoop posture, and bradykinesia (1). The underlying pathology of PD is progressive neuronal loss, particularly in the substantia nigra pars compacta (SNc), and the presence of abnormal protein- rich aggregates—known as Lewy bodies— in the remaining

Indisputable evidence has proven that oxidative stress and radical oxygen system is one of the major factors that contributes to neuronal loss in several neurodegenerative disorders including Parkinson disease. Despite the advances in medical sciences and several studies which have centered on understanding the pathogenesis and mechanism involved in Parkinson disease, not much research in understanding the intricacy of the pathophysiology of the