Divergent amino acid and sphingolipid metabolism in patients with inherited neuro-retinal disease.

ABSTRACT:

Objectives

The non-essential amino acids serine, glycine, and alanine, as well as diverse 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 insight into the pathophysiological mechanisms linking these pathways to neuro-retinal diseases we compared patients diagnosed with two metabolically intertwined diseases: macular telangiectasia type II (MacTel), hereditary sensory autonomic neuropathy type 1 (HSAN1), or both.

Methods

We performed targeted metabolomic analyses of amino acids and broad sphingolipids in sera from a cohort of MacTel (205), HSAN1 (25) and Control (151) participants.

Results

MacTel patients exhibited broad altera

SUBMITTER: Green CR 

PROVIDER: S-EPMC10114224 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature