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Proteomics analysis of a human brain sample from a mucolipidosis type IV patient reveals pathophysiological pathways

ABSTRACT: Proteomics analysis of a human brain sample from a mucolipidosis type IV patient reveals pathophysiological pathways

PROVIDER: PRJNA662921 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR12623620.fastq.gz	Fastqsanger.gz
	SRR12623622.fastq.gz	Fastqsanger.gz
	SRR12623623.fastq.gz	Fastqsanger.gz
	SRR12623624.fastq.gz	Fastqsanger.gz
	SRR12623625.fastq.gz	Fastqsanger.gz

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Proteomics analysis of a human brain sample from a mucolipidosis type IV patient reveals pathophysiological pathways

Project description:We obtained accesses to brain tissue and cerebrospinal fluid (CSF) from the only available post- mortem mucolipidosis type IV (MLIV) patient which became available only recently. We performed mass spectrometry (MS)- based proteomics. Our data demonstrate that pathological players detected in Mcoln1-/- mice are also relevant in the human disease. Moreover, we suggest some previously un-known pathological players. We complement this study by using Mcoln1-/- mice, and were able to confirm that many pathological pathways are evident early in disease development, emphasizing the need for early therapeutic intervention.

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Project description:We compared gene expression profiling of fibroblasts from individuals affected by Mucolipidosis type IV (MLIV) and healthy ones (AB). We directly compared MLIV indivisuals versus normal controls. A total of four technical replicate hybridizations were performed.

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Project description:Mucolipidosis type IV (MLIV) is an autosomal recessive disorder typically characterized by severe psychomotor delay evident by the end of the first year of life and slowly progressive visual impairment during the first decade as a result of a combination of corneal clouding and retinal degeneration. The purpose of this research study is to look at the brain and eye in patients with mucolipidosis type IV (MLIV). MLIV is a lysosomal storage disease that primarily affects the brain and the eyes. The disease is caused by a defect in a gene called MCLON1 that makes a protein called mucolipin-1. Patients with MLIV do not make enough normal mucolipin. The disease begins early in life and the neurological problems seem to stabilize later in life. On the other hand, the eye abnormalities usually progresses over time. The exact course of the disease has not been determined, and until now, no study has addressed this question carefully. The research objectives are: <ol> <li>To learn about the natural history of cognitive function for individuals with mucolipidosis type IV.</li> <li>To measure brain volume over time in individuals with mucolipidosis type IV</li> </ol> This is an observational study of individuals with MLIV disorder. Those participating in this study will be evaluated annually for five years following a baseline visit.

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