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Comment
. 2020 Jul 8;107(1):3-5.
doi: 10.1016/j.neuron.2020.06.007.

PYRC2-Related Hypomyelinating Leukodystrophy: More to This Than Meets the Eye

Jennifer Rakotomamonjy  1 , Lauren Rylaarsdam  2 , Alicia Guemez-Gamboa  3
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Comment

PYRC2-Related Hypomyelinating Leukodystrophy: More to This Than Meets the Eye

Jennifer Rakotomamonjy et al. Neuron. .
Free article

Abstract

Loss-of-function variants in the PYRC2 gene cause hypomyelinating leukodystrophy 10 (HLD10), but the associated pathogenic mechanisms are unknown. In this issue of Neuron, Escande-Beillard et al. (2020) reveal that PYRC2 is a key enzyme for proper brain development and a regulator of glycine homeostasis, uncovering hyperglycinemia as a driver of HLD10 pathogenesis.

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  • Loss of PYCR2 Causes Neurodegeneration by Increasing Cerebral Glycine Levels via SHMT2.
    Escande-Beillard N, Loh A, Saleem SN, Kanata K, Hashimoto Y, Altunoglu U, Metoska A, Grandjean J, Ng FM, Pomp O, Baburajendran N, Wong J, Hill J, Beillard E, Cozzone P, Zaki M, Kayserili H, Hamada H, Shiratori H, Reversade B. Escande-Beillard N, et al. Neuron. 2020 Jul 8;107(1):82-94.e6. doi: 10.1016/j.neuron.2020.03.028. Epub 2020 Apr 23. Neuron. 2020. PMID: 32330411

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