Cerebral White Matter Alterations Associated With Oligodendrocyte Vulnerability in Organic Acidurias: Insights in Glutaric Aciduria Type I

Overview

Journal Neurotox Res

Publisher Springer

Specialty Neurology

Date 2024 Jul 4

PMID 38963434

Authors

Eugenia Isasi

Moacir Wajner

Juliana Avila Duarte

Silvia Olivera-Bravo

Affiliations

Soon will be listed here.

Abstract

The white matter is an important constituent of the central nervous system, containing axons, oligodendrocytes, and its progenitor cells, astrocytes, and microglial cells. Oligodendrocytes are central for myelin synthesis, the insulating envelope that protects axons and allows normal neural conduction. Both, oligodendrocytes and myelin, are highly vulnerable to toxic factors in many neurodevelopmental and neurodegenerative disorders associated with disturbances of myelination. Here we review the main alterations in oligodendrocytes and myelin observed in some organic acidurias/acidemias, which correspond to inherited neurometabolic disorders biochemically characterized by accumulation of potentially neurotoxic organic acids and their derivatives. The yet incompletely understood mechanisms underlying the high vulnerability of OLs and/or myelin in glutaric acidemia type I, the most prototypical cerebral organic aciduria, are particularly discussed.

References

Alberdi E, Sanchez-Gomez M, Torre I, Domercq M, Perez-Samartin A, Perez-Cerda F . Activation of kainate receptors sensitizes oligodendrocytes to complement attack. J Neurosci. 2006; 26(12):3220-8. PMC: 6674098. DOI: 10.1523/JNEUROSCI.3780-05.2006. View

Almasi T, Guey L, Lukacs C, Csetneki K, Voko Z, Zelei T . Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency. Orphanet J Rare Dis. 2019; 14(1):84. PMC: 6485056. DOI: 10.1186/s13023-019-1063-z. View

Alonso-Barroso E, Perez B, Desviat L, Richard E . Cardiomyocytes Derived from Induced Pluripotent Stem Cells as a Disease Model for Propionic Acidemia. Int J Mol Sci. 2021; 22(3). PMC: 7865492. DOI: 10.3390/ijms22031161. View

Back S, Han B, Luo N, Chricton C, Xanthoudakis S, Tam J . Selective vulnerability of late oligodendrocyte progenitors to hypoxia-ischemia. J Neurosci. 2002; 22(2):455-63. PMC: 6758669. View

Baker E, Sloan J, Hauser N, Gropman A, Adams D, Toro C . MRI characteristics of globus pallidus infarcts in isolated methylmalonic acidemia. AJNR Am J Neuroradiol. 2014; 36(1):194-201. PMC: 7965933. DOI: 10.3174/ajnr.A4087. View

Ballhausen D, Guerry F, Hahn D, Schaller A, Nuoffer J, Bonafe L . Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study. J Inherit Metab Dis. 2010; 33 Suppl 3:S219-26. DOI: 10.1007/s10545-010-9098-2. View

Barnett S, Linington C . Myelination: do astrocytes play a role?. Neuroscientist. 2012; 19(5):442-50. DOI: 10.1177/1073858412465655. View

Basinger A, Booker J, Frazier D, Koeberl D, Sullivan J, Muenzer J . Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina. Mol Genet Metab. 2006; 88(1):90-2. DOI: 10.1016/j.ymgme.2005.12.008. View

Bauer J, Bradl M, Klein M, Leisser M, Deckwerth T, Wekerle H . Endoplasmic reticulum stress in PLP-overexpressing transgenic rats: gray matter oligodendrocytes are more vulnerable than white matter oligodendrocytes. J Neuropathol Exp Neurol. 2002; 61(1):12-22. DOI: 10.1093/jnen/61.1.12. View

10.

Baumann N, Pham-Dinh D . Biology of oligodendrocyte and myelin in the mammalian central nervous system. Physiol Rev. 2001; 81(2):871-927. DOI: 10.1152/physrev.2001.81.2.871. View

11.

Bischof F, Nagele T, Wanders R, Trefz F, Melms A . 3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy. Ann Neurol. 2004; 56(5):727-30. DOI: 10.1002/ana.20280. View

12.

Boy N, Mengler K, Thimm E, Schiergens K, Marquardt T, Weinhold N . Newborn screening: A disease-changing intervention for glutaric aciduria type 1. Ann Neurol. 2018; 83(5):970-979. DOI: 10.1002/ana.25233. View

13.

Boy N, Muhlhausen C, Maier E, Heringer J, Assmann B, Burgard P . Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision. J Inherit Metab Dis. 2016; 40(1):75-101. DOI: 10.1007/s10545-016-9999-9. View

14.

Bradl M, Bauer J, Inomata T, Zielasek J, Nave K, Toyka K . Transgenic Lewis rats overexpressing the proteolipid protein gene: myelin degeneration and its effect on T cell-mediated experimental autoimmune encephalomyelitis. Acta Neuropathol. 1999; 97(6):595-606. DOI: 10.1007/s004010051035. View

15.

Bradl M, Lassmann H . Oligodendrocytes: biology and pathology. Acta Neuropathol. 2009; 119(1):37-53. PMC: 2799635. DOI: 10.1007/s00401-009-0601-5. View

16.

Braissant O, Jafari P, Remacle N, Cudre-Cung H, Do Vale Pereira S, Ballhausen D . Immunolocalization of glutaryl-CoA dehydrogenase (GCDH) in adult and embryonic rat brain and peripheral tissues. Neuroscience. 2016; 343:355-363. DOI: 10.1016/j.neuroscience.2016.10.049. View

17.

Brenner M, Johnson A, Boespflug-Tanguy O, Rodriguez D, Goldman J, Messing A . Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. Nat Genet. 2001; 27(1):117-20. DOI: 10.1038/83679. View

18.

BRISMAR J, Brismar G, Gascon G, OZAND P . Canavan disease: CT and MR imaging of the brain. AJNR Am J Neuroradiol. 1990; 11(4):805-10. PMC: 8331616. View

19.

Busanello E, Fernandes C, Martell R, Lobato V, Goodman S, Woontner M . Disturbance of the glutamatergic system by glutaric acid in striatum and cerebral cortex of glutaryl-CoA dehydrogenase-deficient knockout mice: possible implications for the neuropathology of glutaric acidemia type I. J Neurol Sci. 2014; 346(1-2):260-7. DOI: 10.1016/j.jns.2014.09.003. View

20.

Cainelli E, Arrigoni F, Vedovelli L . White matter injury and neurodevelopmental disabilities: A cross-disease (dis)connection. Prog Neurobiol. 2020; 193:101845. DOI: 10.1016/j.pneurobio.2020.101845. View