H-ABC tubulinopathy revealed by label-free second harmonic generation microscopy

Hypomyelination with atrophy of the basal ganglia and cerebellum is a recently described tubulinopathy caused by a mutation in the tubulin beta 4a isoform, expressed in oligodendrocytes. The taiep rat is the only spontaneous tubulin beta 4a mutant available for the study of this pathology. We aimed...

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Bibliographic Details
Published in:Scientific reports 2022-08, Vol.12 (1), p.14417-14417, Article 14417
Main Authors: Alata, Milvia, Piazza, Valeria, Jaramillo-Restrepo, Carla, Eguibar, Jose R., Cortes, Carmen, Hernandez, Victor H.
Format: Article
Language:English
Subjects:
631/1647/245/2226
692/617/375/1411
692/617/375/599
Atrophy
Basal ganglia
Cerebellum
Cytoskeleton
Emissions
Humanities and Social Sciences
Microscopy
multidisciplinary
Mutants
Mutation
Neurodegenerative diseases
Oligodendrocytes
Optics
Science
Science (multidisciplinary)
Substantia alba
Tubulin
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Summary:Hypomyelination with atrophy of the basal ganglia and cerebellum is a recently described tubulinopathy caused by a mutation in the tubulin beta 4a isoform, expressed in oligodendrocytes. The taiep rat is the only spontaneous tubulin beta 4a mutant available for the study of this pathology. We aimed to identify the effects of the tubulin mutation on freshly collected, unstained samples of the central white matter of taiep rats using second harmonic generation microscopy. Cytoskeletal differences between the central white matter of taiep rats and control animals were found. Nonlinear emissions from the processes and somata of oligodendrocytes in tubulin beta 4a mutant rats were consistently detected, in the shape of elongated structures and cell-like bodies, which were never detected in the controls. This signal represents the second harmonic trademark of the disease. The tissue was also fluorescently labeled and analyzed to corroborate the origin of the nonlinear signal. Besides enabling the description of structural and molecular aspects of H-ABC, our data open the door to the diagnostic use of nonlinear optics in the study of neurodegenerative diseases, with the additional advantage of a label-free approach that preserves tissue morphology and vitality.
ISSN:2045-2322
2045-2322
DOI:10.1038/s41598-022-18370-x