دورية أكاديمية
Respiratory neuropathology in Spinocerebellar ataxia type 7.
| العنوان: | Respiratory neuropathology in Spinocerebellar ataxia type 7. |
|---|---|
| المؤلفون: | Biswas DD; Division of Pulmonary and Sleep Medicine, Duke University, Durham, United States of America., Shi Y; Division of Pulmonary and Sleep Medicine, Duke University, Durham, United States of America., El Haddad L; Division of Pulmonary and Sleep Medicine, Duke University, Durham, United States of America., Sethi R; Division of Pulmonary and Sleep Medicine, Duke University, Durham, United States of America., Huston ML; Division of Pulmonary and Sleep Medicine, Duke University, Durham, United States of America., Kehoe S; Division of Pulmonary and Sleep Medicine, Duke University, Durham, United States of America., Scarrow ER; Division of Pulmonary and Sleep Medicine, Duke University, Durham, United States of America., Strickland LM; Division of Pulmonary and Sleep Medicine, Duke University, Durham, United States of America., Pucci LA; Division of Pulmonary and Sleep Medicine, Duke University, Durham, United States of America., Dhindsa JS; Division of Pulmonary and Sleep Medicine, Duke University, Durham, United States of America., Hunanyan A; Division of Pulmonary and Sleep Medicine, Duke University, Durham, United States of America., La Spada AR; Departments of Pathology & Laboratory Medicine, Neurology, Biological Chemi, University of California, Irvine, Irvine, United States of America., ElMallah MK; Division of Pulmonary and Sleep Medicine, Duke University, Durham, United States of America. |
| المصدر: | JCI insight [JCI Insight] 2024 Jul 18. Date of Electronic Publication: 2024 Jul 18. |
| Publication Model: | Ahead of Print |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Ann Arbor, Michigan : American Society for Clinical Investigation, [2016]- |
| مستخلص: | Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant neurological disorder caused by a deleterious CAG repeat expansion in the coding region of the ataxin-7 gene. Infantile onset SCA7 leads to severe clinical manifestation of respiratory distress, but the exact cause of respiratory impairment remains unclear. Using the infantile SCA7 mouse model, the SCA7266Q/5Q mouse, we examined the impact of pathological poly-Q-ataxin-7 mutant ataxin-7 on hypoglossal (XII) and phrenic motor units. We identified the transcript profile of the medulla and cervical spinal cord and, investigated the XII and phrenic nerve and the neuromuscular junctions in the diaphragm and tongue. SCA-7 astrocytes showed significant intranuclear inclusions of ataxin-7 in the XII and putative phrenic motor nuclei. Transcriptomic analysis revealed dysregulation of genes involved in amino acid and neurotransmitter transportation and myelination. Additionally, SCA7 mice demonstrated blunted efferent output of the XII nerve and demyelination in both XII and phrenic nerves. Finally, there was an increased number of NMJ clusters with higher expression of synaptic markers in SCA7 mice compared to WT controls. These pre-clinical findings elucidate the underlying pathophysiology responsible for impaired glial cell function and death leading to dysphagia, aspiration and respiratory failure in infantile SCA7. |
| فهرسة مساهمة: | Keywords: Expression profiling; Neurological disorders; Neuroscience; Pulmonology; Respiration |
| تواريخ الأحداث: | Date Created: 20240725 Latest Revision: 20240725 |
| رمز التحديث: | 20240726 |
| DOI: | 10.1172/jci.insight.170444 |
| PMID: | 39053472 |
| قاعدة البيانات: | MEDLINE |
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