Transcriptomic Characterization of In Vitro Retinal Microvasculature Structures in Diabetes

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Description

Diabetic retinopathy is a disorder that affects many individuals with type 1 and type 2 diabetes mellitus. Due to increased blood glucose levels, microvessels in the retina become leaky, leading to vision loss. Through a cell culture model, this project…

Diabetic retinopathy is a disorder that affects many individuals with type 1 and type 2 diabetes mellitus. Due to increased blood glucose levels, microvessels in the retina become leaky, leading to vision loss. Through a cell culture model, this project aims to set a protocol in establishing a microvascular structure as well as investigate genetic changes that occur with the onset of diabetes. This project showcases images of microvascular-like structures which show progress into full microvascular formation as well as single cell sequencing data showing an endothelial cluster in microvascular-like structures.

Date Created
2022-05
Agent

Delineating the role of methionyl-tRNA-formyltransferase (MTFMT) splice mutation (c.626C>T ) in OXPHOS and Energy Metabolism

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Description
Mitochondrial methionyl-tRNA-formyltransferase (MTFMT) is essential for mitochondrial protein translation. The MTFMT gene encodes for an enzyme of the same name, which acts to formylate the methionine of mitochondrial Met-tRNA(Met). In Homo sapiens, MTFMT-formylated-tRNA is an initiator and elongator…

Mitochondrial methionyl-tRNA-formyltransferase (MTFMT) is essential for mitochondrial protein translation. The MTFMT gene encodes for an enzyme of the same name, which acts to formylate the methionine of mitochondrial Met-tRNA(Met). In Homo sapiens, MTFMT-formylated-tRNA is an initiator and elongator for the synthesis of 13 mitochondrially-encoded proteins in complexes I, III and IV of the ETC. To understand this mechanism, it is necessary to perform a comprehensive analysis of energy metabolism and oxidative phosphorylation (OXPHOS) among impacted patients. Alterations to this gene vary, with the most documented as a single-splice-site mutation (c.626C>T). Here, we discuss MTFMT involvement in mitochondrial protein translation and neurodegenerative disorders, such as Leigh Syndrome and combined OXPHOS deficiency, in two families. We aim to delineate the impact of OXPHOS dysfunction in patients presenting with MTFMT mutation.
Date Created
2020-05
Agent
Subscribe to Rangasamy, Sampathkumar