Investigadoras BUAP

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Browsing Investigadoras BUAP by Author "Alata Tejedo, Milvia Iris"

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  • Artículo
    H-ABC tubulinopathy revealed by label-free second harmonic generation microscopy
    (2022-08-22) Cortes Sánchez, Ma. del Carmen; Alata Tejedo, Milvia Iris; Piazza, Valeria; Jaramillo Restrepo, Carla; Eguibar Cuenca, José Ramón; Hernández González, Víctor Hugo; Cortes Sánchez, Ma. del Carmen; 0000-0002-9163-2665; Alata Tejedo, Milvia Iris; 0000-0003-0598-4136; Piazza, Valeria; 0000-0001-7160-5486
    "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".
  • Artículo
    Longitudinal Evaluation of cerebellar signs of H-ABC tubulinopathy in a patient and in the taiep model
    (2021-07-14) Alata Tejedo, Milvia Iris; Gonzalez Vega, Arturo; Cortes Sánchez, Ma. del Carmen; Piazza, Valeria; Kleinert Altamirano, Anke; Ahumada Juárez, Juan Carlos; Eguibar Cuenca, José Ramon; López Juárez, Alejandra; Hernández González, Víctor Hugo; Alata Tejedo, Milvia Iris; 0000-0003-0598-4136; Gonzalez Vega, Arturo; 0000-0002-5211-3205; Cortes Sánchez, Ma. del Carmen, 0000-0002-9163-2665
    "Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a central neurodegenerative disease due to mutations in the tubulin beta-4A (TUBB4A) gene, characterized by motor development delay, abnormal movements, ataxia, spasticity, dysarthria, and cognitive deficits. Diagnosis is made by integrating clinical data and radiological signs. Differences in MRIs have been reported in patients that carry the same mutation; however, a quantitative study has not been performed so far. Our study aimed to provide a longitudinal analysis of the changes in the cerebellum (Cb), corpus callosum (CC), ventricular system, and striatum in a patient suffering from H-ABC and in the taiep rat. We correlated the MRI signs of the patient with the results of immunofluorescence, gait analysis, segmentation of cerebellum, CC, and ventricular system, performed in the taiep rat. We found that cerebellar and callosal changes, suggesting a potential hypomyelination, worsened with age, in concomitance with the emergence of ataxic gait. We also observed a progressive lateral ventriculomegaly, possibly secondary to the atrophy of the white matter. Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) gives rise to a spectrum of clinical signs whose pathophysiology still needs to be understood".
  • Artículo
    MRI features in a rat model of H-ABC tubulinopathy
    (2020-06-03) Cortes Sánchez, Ma. del Carmen; Eguibar Cuenca, José Ramon; Garduno Robles, Angeles; Alata Tejedo, Milvia Iris; Piazza, Valeria; Pantano, Sergio; Hernández González, Víctor Hugo; Cortes Sánchez, Ma. del Carmen; 0000-0002-9163-2665; Eguibar Cuenca, José Ramon, 0000-0001-6594-1141; Garduno Robles, Angeles; 0000-0002-3360-800X
    "Tubulinopathies are a group of recently described diseases characterized by mutations in the tubulin genes. Mutations in TUBB4A produce diseases such as dystonia type 4 (DYT4) and hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC), which are clinically diagnosed by magnetic resonance imaging (MRI). We propose the taiep rat as the first animal model for tubulinopathies. The spontaneous mutant suffers from a syndrome related to a central leukodystrophy and characterized by tremor, ataxia, immobility, epilepsy, and paralysis. The pathological signs presented by these rats and the morphological changes we found by our longitudinal MRI study are similar to those of patients with mutations in TUBB4A. The diffuse atrophy we found in brain, cerebellum and spinal cord is related to the changes detectable in many human tubulinopathies and in particular in H-ABC patients, where myelin degeneration at the level of putamen and cerebellum is a clinical trademark of the disease. We performed Tubb4a exon analysis to corroborate the genetic defect and formulated hypotheses about the effect of amino acid 302 change on protein physiology. Optical microscopy of taiep rat cerebella and spinal cord confirmed the optical density loss in white matter associated with myelin".