Isogenic pairs of MPS VI gene corrected iPSC and Chondrogenic cells
Ontology highlight
ABSTRACT:
PROVIDER: PRJNA902344 | ENA |
REPOSITORIES: ENA
Dataset's files
| Action | DRS | |||
|---|---|---|---|---|
| SRR22312200.fastq.gz | Fastqsanger.gz | |||
| SRR22312200_1.fastq.gz | Fastqsanger.gz | |||
| SRR22312200_2.fastq.gz | Fastqsanger.gz | |||
| SRR22312201.fastq.gz | Fastqsanger.gz | |||
| SRR22312201_1.fastq.gz | Fastqsanger.gz |
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Project description:To investigate the effect of MPS VI on gene expression in chondrogenic cells, we gene corrected four patient derived hiPSC using a ARSB knock-in into the AAVS1 locus. We differentiated cells into chondrogenic cells using a 14 day protocol, we proformed gene expression profiling analysis using data obtained from RNA-seq at iPS stage in monoplo and differentiated cells in triplo.
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Project description:Mucopolysaccharidosis VII (MPS VII) is due to mutations within the gene encoding the lysosomal enzyme beta-glucuronidase, and results in the accumulation of glycosaminoglycans. MPS VII causes aortic dilatation and elastin fragmentation. In this study we performed microarray analysis of ascending aortas from normal and MPS VII mice, trying to find out possible genes responsible for the phenotype observed. In addition, during our breeding strategy, we noticed that some MPS VII mice had less dilated aortas, and we proposed that an yet-unidentified gene could be responsible for the difference observed. We therefore included in the analysis two MPS VII mice with aortas that were not dilated.
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Project description:<p>Mucopolysaccharidosis (MPS) types I, II, IV, VI and VII, are inherited diseases that result from the bodies inability to break down large sugar molecules that are by-products of metabolism. MPS affects most organs of the body and causes abnormalities in the liver, spleen, bones, and brain. We are studying the central nervous system (primarily the brain) so we can better understand the nature of the problems individuals with MPS I, II, IV, VI and VII have so we can find ways of better treating these problems. We would like to find out about the changes in the brain of individuals with MPS I, II, IV, VI and VII using data from MRI and neuropsychological tests. This is a longitudinal study so patients who enroll will need to be seen 3 times over 5 years. The longitudinal nature of the study allows us to make conclusions about how changes in some structures of the brain and changes in cognitive ability are related.</p> <p>The research objectives are: <ol> <li>To identify abnormalities of brain (and central nervous system) structure and function in patients with MPS I, II, IV, VI and VII, regardless of how they are being treated or have been treated in the past; and to track disease progression over time.</li> <li>To examine the degree to which independent variables (e.g., age at first treatment, severity of disease, types of medical abnormalities, mutation, medical events, and sensory abnormalities) have an impact on both functional and structural outcomes as well as on quality-of-life.</li> <li>To identify, through longitudinal study, those measures that most accurately reflect the current disease state.</li> </ol> </p> <p>This is a longitudinal study of 75-100 individuals with either MPS I, II, IV, VI and VII. Those participating in the study will be evaluated 3 times over 5 years. The primary site for this study is the University of Minnesota but there are an additional 6 centers in the United States and Canada that are also participating and will provide data for analysis. You will need to be able to travel to Minnesota or one of the participating centers in order to be a part of this study.</p>
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