Publications by authors named "Hilario Gomez Martin"
Background: Dystonia is a common neurological hyperkinetic movement disorder that can be caused by mutations in anoctamin 3 (ANO3, TMEM16C), a phospholipid scramblase and ion channel. We previously reported patients that were heterozygous for the ANO3 variants S651N, V561L, A599D and S651N, which cause dystonia by unknown mechanisms.
Methods: We applied electrophysiology, Ca measurements and cell biological methods to analyze the molecular mechanisms that lead to aberrant intracellular Ca signals and defective activation of K channels in patients heterozygous for the ANO3 variants.
Article Synopsis
- * Researchers found mutations in the ZFTRAF1 gene, which encodes an unknown protein, and confirmed its absence in the affected individuals’ cells, indicating a potential link to the disorder.
- * The study highlights that the affected individuals exhibit disruptions in cellular processes, particularly those related to mRNA processing and autophagy, suggesting that ZFTRAF1 variants contribute to neurodevelopmental issues.
Anoctamin 3 (ANO3) belongs to a family of transmembrane proteins that form phospholipid scramblases and ion channels. A large number of ANO3 variants were identified as the cause of craniocervical dystonia, but the underlying pathogenic mechanisms remain obscure. It was suggested that ANO3 variants may dysregulate intracellular Ca2+ signalling, as variants in other Ca2+ regulating proteins like hippocalcin were also identified as a cause of dystonia.
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- - Limb-girdle muscular dystrophies (LGMD) include various genetic muscle disorders, and the TRAPPC11-related LGMD R18 is noted for causing muscle weakness and intellectual disability, particularly in Roma individuals due to a specific genetic variant.
- - A study of 25 Roma individuals revealed that the c.1287+5G>A variant results in early muscle weakness and intellectual challenges, along with almost universal microcephaly and potential seizures triggered by early-life infections.
- - Findings suggest that the genetic variant not only affects muscle function but also disrupts mitochondrial health, revealing insights into its impact on energy production and cellular structure in affected individuals.
Introduction: PLA2G6-associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features.
Methods: Observational clinical study in a cohort of infantile and childhood onset PLAN patients and genetic analysis of the PLA2G6 gene. We analysed chronological evolution in terms of age at onset and disease course through a 66-item questionnaire.