Fourier-Transform Infrared Spectroscopy as a Discriminatory Tool for Myotonic Dystrophy Type 1 Metabolism: A Pilot Study
- Resource Type
- Authors
- Adriana Costa; Filipa Martins; Ivânia Alves; Odete A. B. da Cruz e Silva; Maria Teresa Herdeiro; Tiago Mateus; Sandra Magalhães; Idália Almeida; Sandra Rebelo; Alexandra Nunes; Diana Viegas; Carla Fraga
- Source
- International Journal of Environmental Research and Public Health
Volume 18
Issue 7
International Journal of Environmental Research and Public Health, Vol 18, Iss 3800, p 3800 (2021)
- Subject
- musculoskeletal diseases
Pathology
medicine.medical_specialty
congenital, hereditary, and neonatal diseases and abnormalities
Health, Toxicology and Mutagenesis
Population
lcsh:Medicine
Fourier-transform infrared spectroscopy
Pilot Projects
Biology
Myotonic dystrophy
Article
03 medical and health sciences
0302 clinical medicine
Metabolomics
fibroblasts
Spectroscopy, Fourier Transform Infrared
medicine
Metabolome
Humans
Myotonic Dystrophy
education
myotonic dystrophy type 1
030304 developmental biology
0303 health sciences
education.field_of_study
Principal Component Analysis
Muscle Weakness
lcsh:R
Public Health, Environmental and Occupational Health
Lipid metabolism
metabolomic profile
medicine.disease
Myotonia
Phenotype
Metabolic syndrome
Age of onset
030217 neurology & neurosurgery
- Language
- ISSN
- 1660-4601
Myotonic dystrophy type 1 (DM1) is a hereditary disease characterized by progressive distal muscle weakness and myotonia. Patients with DM1 have abnormal lipid metabolism and a high propensity to develop a metabolic syndrome in comparison to the general population. It follows that metabolome evaluation in these patients is crucial and may contribute to a better characterization and discrimination between DM1 disease phenotypes and severities. Several experimental approaches are possible to carry out such an analysis
among them is Fourier-transform infrared spectroscopy (FTIR) which evaluates metabolic profiles by categorizing samples through their biochemical composition. In this study, FTIR spectra were acquired and analyzed using multivariate analysis (Principal Component Analysis) using skin DM1 patient-derived fibroblasts and controls. The results obtained showed a clear discrimination between both DM1-derived fibroblasts with different CTG repeat length and with the age of disease onset
this was evident given the distinct metabolic profiles obtained for the two groups. Discrimination could be attributed mainly to the altered lipid metabolism and proteins in the 1800–1500 cm−1 region. These results suggest that FTIR spectroscopy is a valuable tool to discriminate both DM1-derived fibroblasts with different CTG length and age of onset and to study the metabolomic profile of patients with DM1.