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SUCLA2 and LMAN2-L associated neuroloical disorders - Thesis Proposal Example

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Thesis (outline—headings and subheadings) Uncovering the Causation of Novel Neurological Syndromes I. Introduction Problem Statement Research Question Statement of Purpose Aim and Objectives Hypothesis II. Biology of SUCLA2 and LMAN2-L Biological Significance of the SUCLA2 gene Neurological Disorders associated with Defects in SUCLA2 Biological Significance of the LMAN2-L gene Neurological Disorders associated with Defects in LMAN2-L III…
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SUCLA2 and LMAN2-L associated neuroloical disorders

Download file to see previous pages... Observations and Results Observations of Next Generation Sequencing Assembly and Analysis of the Sequence Conclusions from Next Generation Sequencing Observations of Linkage Analysis Conclusions from Linkage Analysis Results, Summary VII. Discussion and Conclusions VIII. Summary and Future Directions Future Directions IX. Works Cited Thesis (Text with outline—headings and subheadings) Uncovering the Causation of Novel Neurological Syndromes I. Introduction SUCLA2 and LMAN2-L are two important genes whose mutations result in several disorders including neurological syndromes. The SUCLA2 gene codes for succinate-CoA ligase (ADP forming) beta subunit. It is also referred to as the renal carcinoma antigen NY-REN-39, SCS-betaA, or Succinyl-CoA synthetase beta-A chain. The SUCLA2 gene codes for a mitochondrial matrix enzyme made of 463 amino acids, which is a part of the succinate/malate CoA ligase beta subunit family. The enzyme is responsible for the catalysis of the reaction between succinate and CoA to form succinyl-CoA in an ATP-dependant ligation mechanism. There are two isoforms of the SUCLA2 protein, which arise from alternative splicing events. The protein forms dimers with the SCS alpha subunit, resulting in the formation of the SCS-A, which is an important constituent of the Krebs cycle (Tricarboxylic acid cycle, TCA). The gene is localized in the mitochondria. Mutations in the SUCLA2 gene result in several autosomal recessive disorders. These disorders are caused because of a decrease in the copy numbers of mitochondrial (mtDNA) in the tissues that are affected. The disorders are thus called Mitochondrial DNA depletion syndromes type 5 (MTDPS5). The disorders resulting from SUCLA2 gene defects are characterized by the infantile onset of neurologic deterioration, deafness, hypotonia, external ophthalmoplegia, methylmalonic aciduria, hyperkinetic-dystonic movement disorder and dysfunction of the renal tubules (genecards.org). The LMAN2-L gene codes for an integral membrane protein – lectin mannose-binding 2-like protein, which is involved in regulating the export of several glycoproteins from the endoplasmic reticulum. The protein may also be involved in the regulation of ERGIC-53. Other names of the protein include VIP36-like protein, LMAN2-like protein, and VIPL. The protein has two isoforms that arise from alternative splicing. It is involved in vesicle-mediated glycoprotein transport. The protein is made of 348 amino acids and is localized in the membrane of the endoplasmic reticulum and partly in the Golgi apparatus. The protein has an important role in the secretory pathway. It is also involved in sorting and transportation of glycoproteins as well as high mannose type glycans. The protein also functions in binding metal ions and sugar ions. The highest expression of the gene LMAN2-L occurs in the kidney and skeletal muscle, while lower levels of expression occur in the spleen, brain, lungs and thymus. Mutation in the LMAN2-L gene results in autosomal dominant neurological disorders. The present paper aims at investigating two novel neurological disorders, one is a disease caused by a novel mutation in SUCLA2 gene and the second disease is caused by a mutation in the LMA ...Download file to see next pagesRead More
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