ORCID Profile
0000-0002-4653-1902
Current Organisations
The Salk Institute for Biological Studies
,
Iran University of Science and Technology
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Publications
Divergent amino acid and sphingolipid metabolism in patients with inherited neuro-retinal disease
Publisher: Cold Spring Harbor Laboratory
Date: 10-11-2022
DOI: 10.1101/2022.11.09.22281993
Abstract: The non-essential amino acids serine, glycine, and alanine, as well as erse sphingolipid species, are implicated in inherited neuro-retinal disorders and are metabolically linked by serine palmitoyltransferase (SPT), a key enzyme in membrane lipid biogenesis. To gain insights into the pathophysiological mechanisms linking these pathways to neuro-retinal diseases we performed a targeted metabolomic analysis of these pathways in sera from patients diagnosed with two metabolically intertwined diseases: macular telangiectasia type II (MacTel), hereditary sensory autonomic neuropathy type 1 (HSAN1), or both. In a cohort of participants, MacTel patients exhibited broad alterations of amino acids, including changes in serine, glycine, alanine, glutamate, and branched-chain amino acids reminiscent of diabetes. MacTel patients had elevated 1-deoxysphingolipids but reduced levels of complex sphingolipids in circulation. A mouse model indicates this depletion in complex sphingolipids can be driven by low dietary serine and glycine. HSAN1 patients exhibited elevated serine, lower alanine, and a reduction in canonical ceramides and sphingomyelins compared to controls. Those patients diagnosed with both HSAN1 and MacTel showed the most significant decrease in circulating sphingomyelins. These results highlight metabolic distinctions between these two diseases, emphasize the importance of membrane lipids in the progression of MacTel, and suggest distinct therapeutic approaches.
Design of an expert system based on neuro-fuzzy inference analyzer for on-line microstructural characterization using magnetic NDT method
Publisher: Elsevier BV
Date: 04-2015
Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy
Publisher: Massachusetts Medical Society
Date: 10-10-2019
Related Organisations
The Salk Institute For Biological Studies
Location: United States of America
University Of California, San Diego
Location: United States of America
Iran University Of Science And Technology
Location: Iran (Islamic Republic of)
University Of Nottingham
Location: United Kingdom of Great Britain and Northern Ireland
Loughborough University
Location: United Kingdom of Great Britain and Northern Ireland
Related Funding Activities
No related grants have been discovered for Michal Handzlik.