Progressive alterations in amino acid and lipid metabolism correlate with peripheral neuropathy in <i>Polg</i><sup>D257A</sup> mice.

Lim, Esther W; Handzlik, Michal K; Trefts, Elijah; Gengatharan, Jivani M; Pondevida, Carlos M; Shaw, Reuben J; Metallo, Christian M · Sci Adv · 2021

basic_science · Level V

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Abstract

Mitochondria are central to metabolic homeostasis, and progressive mitochondrial defects have diverse metabolic consequences that could drive distinct pathophysiological states. Here, we comprehensively characterized metabolic alterations in <i>Polg</i><sup>D257A</sup> mice. Plasma alanine increased markedly with time, with other organic acids accumulating to a lesser extent. These changes were reflective of increased Cori and Cahill cycling in <i>Polg</i><sup>D257A</sup> mice and subsequent hypoglycemia, which did not occur during normal mouse aging. Tracing with [<sup>15</sup>N]ammonium further supported this shift in amino acid metabolism with mild impairment of the urea cycle. We also measured alterations in the lipidome, observing a reduction in canonical lipids and accumulation of 1-deoxysphingolipids, which are synthesized from alanine via promiscuous serine palmitoyltransferase activity and correlate with peripheral neuropathy. Consistent with this metabolic link, <i>Polg</i><sup>D257A</sup> mice exhibited thermal hypoalgesia. These results highlight the longitudinal changes that occur in intermediary metabolism upon mitochondrial impairment and identify a contributing mechanism to mitochondria-associated neuropathy.