Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
| Autor: | Maikel C. Rheinstädter, Yuchen Zhang, Asfia Soomro, Ayodele Fatona, Marc Pieterse, Richard J. Alsop, Kimberly Dej |
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| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
Male
0301 basic medicine Pathology Ribosomopathy lcsh:Medicine medicine.disease_cause Biochemistry Small-Angle Scattering Scattering 0302 clinical medicine X-Ray Diffraction Keratin Medicine and Health Sciences Membrane Technology Child Intermediate filament lcsh:Science chemistry.chemical_classification Mutation Multidisciplinary Molecular Structure integumentary system Physics Built Structures Lipids Hypotonia Chemistry medicine.anatomical_structure 030220 oncology & carcinogenesis Physical Sciences Keratins Engineering and Technology Anatomy Integumentary System medicine.symptom Research Article medicine.medical_specialty Structural Engineering Biophysics Structural Characterization Biology Research and Analysis Methods Membrane Structures 03 medical and health sciences Tensile Strength medicine Humans Eukaryotic Small Ribosomal Subunit Brittle hair Chemical Physics lcsh:R Genetic Diseases Inborn Biology and Life Sciences Proteins Cytoskeletal Proteins 030104 developmental biology chemistry Scalp lcsh:Q sense organs Ribosomes Hair |
| Zdroj: | PLoS ONE, Vol 11, Iss 3, p e0149619 (2016) PLoS ONE |
| ISSN: | 1932-6203 |
| Popis: | We report the biophysical characterization of hair from a patient with a de novo ribosomopathy. The patient was diagnosed with a mutation on gene RPS23, which codes for a protein which comprises part of the 40S subunit of the ribosome. The patient presents with a number of phenotypes, including hypotonia, autism, extra teeth, elastic skin, and thin/brittle hair. We combined optical microscopy, tensile tests, and X-ray diffraction experiments on hair samples obtained from the scalp of the patient to a multi-scale characterization of the hair from macroscopic to molecular length scales and observe distinct differences in the biophysical properties in the patient’s hair when compared to hair from other family members. While no differences were observed in the coiled-coil structure of the keratin proteins or the structure of the intermediate filaments, the patient’s hair was 22% thinner, while the Young’s modulus remained roughly constant. The X-ray diffraction results give evidence that the amount of lipids in the cell membrane complex is reduced by 20%, which well accounts for the other observations. The pathologies characterized by these techniques may be used to inform the diagnosis of similar de novo mutations in the future. |
| Databáze: | OpenAIRE |
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