Elevated glutamate and decreased glutamine levels in the cerebrospinal fluid of patients with MELAS syndrome.

ABSTRACT:

Background

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a genetically heterogeneous disorder caused by mitochondrial DNA (mtDNA) mutations in the MT-TL1 gene. The pathophysiology of neurological manifestations is still unclear, but neuronal hyperexcitability and neuron-astrocyte uncoupling have been suggested. Glutamatergic neurotransmission is linked to glucose oxidation and mitochondrial metabolism in astrocytes and neurons. Given the relevance of neuron-astrocyte metabolic coupling and astrocyte function regulating energetic metabolism, we aimed to assess glutamate and glutamine CSF levels in MELAS patients.

Methods

This prospective observational case-control study determined glutamate and glutamine CSF levels in patients

SUBMITTER: Guerrero-Molina MP 

PROVIDER: S-EPMC8794606 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature