Neuroacanthocytosis associated with a defect of the 4.1R membrane protein
| Autor: | Anna Tarzia, Alessandro Stefani, Toshitaka Kawarai, Salvati Am, Antonio Pisani, Giorgio Bernardi, Adriana Rum, Antonio Orlacchio, Paolo Cianciulli, Paolo Calabresi, Patrizia Caprari |
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| Jazyk: | angličtina |
| Rok vydání: | 2007 |
| Předmět: |
Nervous system
Adult Male medicine.medical_specialty Heterozygote Central nervous system DNA Mutational Analysis Clinical Neurology Case Report AMPA receptor Polymorphism Single Nucleotide lcsh:RC346-429 Chorea Internal medicine Neuroacanthocytosis medicine Humans Spectrin Genetic Predisposition to Disease Polymorphism lcsh:Neurology. Diseases of the nervous system Aged business.industry Medicine (all) Glutamate receptor Membrane Proteins General Medicine Single Nucleotide medicine.disease Pedigree Cytoskeletal Proteins medicine.anatomical_structure Endocrinology Membrane protein Mutation Female Neurology (clinical) Settore MED/26 - Neurologia business Neuroscience Postsynaptic density |
| Zdroj: | BMC Neurology, Vol 7, Iss 1, p 4 (2007) BMC Neurology |
| ISSN: | 1471-2377 |
| Popis: | Background Neuroacanthocytosis (NA) denotes a heterogeneous group of diseases that are characterized by nervous system abnormalities in association with acanthocytosis in the patients' blood. The 4.1R protein of the erythrocyte membrane is critical for the membrane-associated cytoskeleton structure and in central neurons it regulates the stabilization of AMPA receptors on the neuronal surface at the postsynaptic density. We report clinical, biochemical, and genetic features in four patients from four unrelated families with NA in order to explain the cause of morphological abnormalities and the relationship with neurodegenerative processes. Case presentation All patients were characterised by atypical NA with a novel alteration of the erythrocyte membrane: a 4.1R protein deficiency. The 4.1R protein content was significantly lower in patients (3.40 ± 0.42) than in controls (4.41 ± 0.40, P < 0.0001), reflecting weakened interactions of the cytoskeleton with the membrane. In patients IV:1 (RM23), IV:3 (RM15), and IV:6 (RM16) the 4.1 deficiency seemed to affect the horizontal interactions of spectrin and an impairment of the dimer self-association into tetramers was detected. In patient IV:1 (RM16) the 4.1 deficiency seemed to affect the skeletal attachment to membrane and the protein band 3 was partially reduced. Conclusion A decreased expression pattern of the 4.1R protein was observed in the erythrocytes from patients with atypical NA, which might reflect the expression pattern in the central nervous system, especially basal ganglia, and might lead to dysfunction of AMPA-mediated glutamate transmission. |
| Databáze: | OpenAIRE |
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