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Histopathological analysis of MCT8-deficient human brains

AuthorsLópez-Espíndola, Daniela; Refetoff, Samuel; Bernal, Juan ; Guadaño-Ferraz, Ana
Issue Date2013
CitationETA 2013
Abstract[Objectives]: Patients with mutations in the gene encoding the highly specific thyroid hormone monocarboxylate transporter 8 (MCT8; SLC16A2), develop a syndrome characterized by severe psychomotor retardation and abnormal serum thyroid hormone levels. The pathophysiology of the neurological syndrome remains unknown, and the brain histopathology is essential for its understanding. We examined the brain histopathology of two MCT8 deficient subjects: a 30-week fetus from Israel following a therapeutic abortion, and an Australian 11-year old boy who died from aspiration pneumonia. The aims of the study were: to identify histopathological alterations, to search for prenatal injuries, and to evaluate whether the changes are compatible with a state of cerebral hypothyroidism. [Methods]: Histological techniques included: hematoxylin-eosin staining to analyze general brain structure; staining with Sudan black B, Luxol Fast Blue, and antibodies against MBP, MOG, and PLP to analyze myelin components; neurofilament, parvalbumin and calbindin-28k antibodies to assess the differentiation of neuronal subpopulations; and a synaptophysin antibody to analyze the synapses. [Results]: Prenatally, the affected subject showed delay in cortical and cerebellar maturation compared to an age-matched control. There was impaired axonal maturation, and cerebellar myelination, and diminished biochemical differentiation of cerebellar Purkinje cells. Sections from the 11-y old boy showed histological signs of atrophy, deficient myelination, and lower density of presynaptic vesicles in several brain regions. Axonal maturation was impaired, with a high proportion of axons bearing abnormally thin diameter in brainstem motor and sensory tracts. [Conclusions]: MCT8 transporter deficiency shows histological signs of brain damage from at least the 30th week of prenatal life, with impairment of neuronal differentiation and deficient myelination that persist until at least 11-years of age. These changes are compatible with the view that MCT8 deficiency causes a profound brain hypothyroidism.
DescriptionResumen del póster presentado al 37th Annual Meeting of the European Thyroid Association, celebrado en Leiden (Holanda) del 7 al 11 de septiembre de 2013.-- et al.
Appears in Collections:(IIBM) Comunicaciones congresos
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