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

Jennifer Rakotomamonjy; Lauren Rylaarsdam; Alicia Guemez-Gamboa

doi:10.1016/j.neuron.2020.06.007

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

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

Authors

Jennifer Rakotomamonjy¹, Lauren Rylaarsdam², Alicia Guemez-Gamboa³

Affiliations

¹ Department of Physiology, Northwestern University, Chicago, IL 60611, USA.
² Department of Physiology, Northwestern University, Chicago, IL 60611, USA; Northwestern University Interdepartmental Neuroscience (NUIN) Graduate Program, Chicago, IL 60611, USA.
³ Department of Physiology, Northwestern University, Chicago, IL 60611, USA. Electronic address: alicia.guemez@northwestern.edu.

PMID: 32645307
DOI: 10.1016/j.neuron.2020.06.007

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.

Publication types

Comment

MeSH terms

Brain Diseases / metabolism*
Glycine*
Humans
Pyrroline Carboxylate Reductases
Ubiquitin-Protein Ligases / metabolism*

Substances

PYCR2 protein, human
Pyrroline Carboxylate Reductases
BRAP protein, human
Ubiquitin-Protein Ligases
Glycine

Grants and funding

R00 NS089943/NS/NINDS NIH HHS/United States