The Causes Of Lysosomal Diseases - 719 Words

More dysregulated metabolites were identified in the liver (n=177) than that in the brain (n=122). Notably, there are more amino acid, amino acid derivatives and dipeptides identified in livers (mostly upregulated). These results are expected because the liver is the primary site of metabolism. In terms of pathways enriched, significant involvement of neurotransmission and chemical synaptic transmission were observed in the brain. Meanwhile, there are several pathways only enriched in livers, including gamma glutamyl cycle, leukotriene biosynthesis, Phase II conjugation and glutathione synthesis, which are mainly associated with oxidative stress and inflammation. The energy imbalance in SD leads to increased respiratory chain activity in†¦show more content†¦The oxidative stress can cause cell damage, resulting in inflammation, which has also been found to be a major contributor to disease progression of GM2 gangliosidosis [17]. In this study, we identified elevation in glut athione pathways, which plays a pivotal role in responses to oxidative stress. Another evidence of inflammation is reduced levels of arachidonic acid, an omega-6 fatty acid, in brain samples of SD mice. Oxidation of arachidonic acid can generate leukotrienes, a family of eicosanoid inflammatory mediators produced in leukocytes, and thus promote inflammation. The increased energy requirements can also activate autophagy and protein catabolism, which have been found in MPS I and MPS VII mice [13]. In this study, we found increased levels of amino acids, amino acid derivatives and dipeptides, indicating increased protein catabolism. Increased requirements of energy and raw materials can also activate lipid metabolism and carbohydrate metabolism, manifested by decreased adiposity, a common observation in many lysosomal diseases [18-20]. In addition, the enlarged lysosome and distended cells due to abnormal accumulation requires increased membrane synthesis, which can also affect lipid m etabolism. Our previous proteomic analysis [21] also identified abnormality in the cytoskeleton system, which can be partially attributed to altered cellular architecture due to storage accumulation. Collectively, we show here that the energy imbalance caused by the lack ofShow MoreRelatedGaucher Disease Types I, II, IIi869 Words   |  4 PagesGaucher Disease Types I, II, III Gaucher Disease is a type of lysosomal storage disorder. The importance is that they are meant to keep everything in order. Lysosomes are microscopic organelles that have a primary function to serve as digestion compartments. According to Davidson, (1) â€Å"lysosomes help break down many different materials such as fats, proteins, waste products, and more to transfer those compounds to become new cell building materials†. Consequentially, making lysosomes an importantRead MoreUse of Energy by the Human Body782 Words   |  3 Pagesessentially the only fuel source used by the brain. The primary function of muscle glycogen is to supply fuel for the contraction of the muscles during exercise. However, insufficient amount of glycogen in the liver and muscles can lead to numerous diseases, diseases like Glycogen Storage Disorders (GSD). Glycogen synthesis and breakdown occur by distinctive pathways that are catalyzed by different enzymes. Glycogen phosphorylation involves three steps: the first is the release of glucose 1-phosphate fromRead MoreTaking a Look in Tay-Sachs Disease952 Words   |  4 Pagesfunctioning to full potential, serious if not fatal consequences can be faced. A shining example of the effects of a malfunctioning organelle occurs in Tay-Sachs disease. Tay- Sachs disease is a lysosomal disorder that is caused by a faulty lysosome.1 Recent studies and research have been investigating the causes and pathways Tay-Sachs disease with great success, which is amazing news for the scientific community. Lysosomes are membranous sacs of enzymes that are typically are involved in the digestionRead MoreTaking a Look at Niemann-Pick Disease1294 Words   |  5 PagesNiemann-Pick disease an inherited condition involving lipid metabolism, which is the breakdown, transport, and use of fats and cholesterol in the body is the condition in which abnormal lipid metabolism causes harmful amounts of lipid to accumulate in parts of the body. There are 3 forms of this disease: Type A, B, and C. The general focus of this paper will be Type C. Niemann-Pick’s disease Type C (NPC) is disease in which unesterified cholesterol and other lipids accumulate in late endosomes/lysosomesRead MoreThe Batten Disease And Its Effects On The Nervous System1697 Words   |  7 PagesExtra Credit Paper Batten Disease The Batten disease is characterized as an autosomal recessive, fatal disorder that consists of detrimental effects on the nervous system. Although the disease typically presents during childhood, there are many forms that show signs at various ages. Batten disease, also known as Spielmeyer-Vogt-Sjà ¶gren-Batten disease, is named after the British pediatrician who first correlated its symptoms with the disease progression in 1903. This disease is the most common typeRead MoreEvolving Concepts of Pathogenesis, Transmission, Diagnosis, Treatment and Antibiotic Resistance of Mycobacterium Tuberculosis1010 Words   |  4 Pagestuberculosis. It is the reason of virtually millions of deaths all over the world every year. This ratio is more than the deaths caused by any other pathogen. From the start of the twentieth century, tuberculosis has become a relatively uncommon disease instead of the most common reason of deaths worldwide [1-3]. The incidence of tuberculosis has waned in the d eveloped countries. The World Health Organization reports that more than ten million cases and two to three million deaths occur annuallyRead MoreGlucocerebrosidase Enzyme Essay986 Words   |  4 Pagesimpairment and psychosis of PD and DLB. The lost function of GBA has been found in postmortem brain of individuals that were diagnosed had a global defect in lysosomal enzymes with those with PD. The GBA gene within the brain increases the risk of individuals of having PD due to the mutation of the gene. These genes will reflect the low activity of lysosomal hydrolase ÃŽ ²-glucocerebrosidase (GCase) where the accumulation of ÃŽ ±-synuclein occurs in the anterior cingulate and occipital cortex [10]. GBA mutationsRead MoreThe Complex And Major Organ Of Our Body Perform Essay1598 Words   |  7 Pagesbalance secretion, metabolism, and excretion of hormones and gluconeogenesis.Each kidney in the human contains about 800,000 to 1,000,000 nephrons, each capable of forming urine. The kidn ey cannot regenerate new nephrons. Therefore, with renal injury, disease, or normal aging, there is a gradual decrease in nephron number (Guyton 2011). Although, there is a substantial capacity within the kidney for repair but there are also several circumstances where damage may be irreversible. In general, the proximalRead MoreProteomics Essay754 Words   |  4 PagesPPI is fundamental to define the molecular networks that contribute to homeostasis of living organisms. Disruptions in protein interaction networks have been shown to cause diseases in both human and animals. For instance, PPI disturbances have been shown to be involved in cancer caused by p53 mutations [47], neurodegenerative diseases resulting from protein aggregates accumulation [48], and virus-host interactions [49]. Therefore, the monitoring and study of PPIs can provide innovative options forRead MoreTRMPL1 : The Role Of TRPML11291 Words   |  6 Pages Role of TRPML1 As mentioned before, TRPML1 is the transient receptor protein affected by the mutation that causes MLIV. The TRP gene family are not yet well characterized, but are known to localize in late endosomes and have associations with lysosomes. It is required for proper and efficient fusion of late endosomes and autophagosomes with lysosomes (6). There were debates regarding what sort of channel TRMPL1 was, with some stating that it was a proton channel rather than an ion channel (2)