lørdag den 21. januar 2017

ALDH4A1 and ME

Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the ALDH4A1 gene (aldehyde dehydrogenase 4 family, member A1). This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase that catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. (1).

Pyrroline-5-carboxylic acid is increased in ME patients (2).

The gene ALDH4A1 has been found epigenetic changed (hypermethylated) in ME (3).

Expression of the proteins P5C-dehyrogenase and P5C-synthase have been found upregulated in ME (4).

P5C-dehydrogenase has been found to be an immunoreactive protein against IgGs from POTS-patients (5).


  1. Wikipedia: Aldehyde dehydrogenase 4 family, member A1
  2. Naviaux et al: Metabolic features of CFS. www.pnas.org/cgi/doi/10.1073/pnas.1607571113
  3. Vega et al. DNA methylation Modifications associated with CFS. Plos One, aug 2014, vol 9, Issue 8, e10475
  4. Ciregia et al.
    Translational Psychiatry (2016), 6, e904
  5. Wang et al: Autoimmunoreactive IgGs from patients with POTS. Prot. Clin. Appl. 2012, 6, 1-11.

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