Primary mitochondrial myopathies (PMM) are a group of mitochondrial disorders characterized by a predominant skeletal muscle involvement. The aim of this study was to evaluate whether the biochemical profile determined by Fourier-transform infrared (FTIR) spectroscopic technique would allow to distinguish among patients affected by progressive external ophthalmoplegia (PEO), the most common PMM presentation, oculopharyngeal muscular dystrophy (OPMD), and healthy controls. Thirty-four participants were enrolled in the study. FTIR spectroscopy was found to be a sensitive and specific diagnostic marker for PEO. In particular, FTIR spectroscopy was able to distinguish PEO patients from those affected by OPMD, even in the presence of histological findings similar to mitochondrial myopathy. At the same time, FTIR spectroscopy differentiated single mtDNA deletion and mutations in POLG, the most common nuclear gene associated with mitochondrial diseases, with high sensitivity and specificity. In conclusion, our data suggest that FTIR spectroscopy is a valuable biodiagnostic tool for the differential diagnosis of PEO with a high ability to also distinguish between single mtDNA deletion and mutations in POLG gene based on specific metabolic transitions.

Fourier-transform infrared spectroscopy of skeletal muscle tissue: Expanding biomarkers in primary mitochondrial myopathies / Gervasoni, J.; Primiano, A.; Marini, F.; Sabino, A.; Biancolillo, A.; Calvani, R.; Picca, A.; Marzetti, E.; Persichilli, S.; Urbani, A.; Servidei, S.; Primiano, G.. - In: GENES. - ISSN 2073-4425. - 11:12(2020), pp. 1-8. [10.3390/genes11121522]

Fourier-transform infrared spectroscopy of skeletal muscle tissue: Expanding biomarkers in primary mitochondrial myopathies

Marini F.;
2020

Abstract

Primary mitochondrial myopathies (PMM) are a group of mitochondrial disorders characterized by a predominant skeletal muscle involvement. The aim of this study was to evaluate whether the biochemical profile determined by Fourier-transform infrared (FTIR) spectroscopic technique would allow to distinguish among patients affected by progressive external ophthalmoplegia (PEO), the most common PMM presentation, oculopharyngeal muscular dystrophy (OPMD), and healthy controls. Thirty-four participants were enrolled in the study. FTIR spectroscopy was found to be a sensitive and specific diagnostic marker for PEO. In particular, FTIR spectroscopy was able to distinguish PEO patients from those affected by OPMD, even in the presence of histological findings similar to mitochondrial myopathy. At the same time, FTIR spectroscopy differentiated single mtDNA deletion and mutations in POLG, the most common nuclear gene associated with mitochondrial diseases, with high sensitivity and specificity. In conclusion, our data suggest that FTIR spectroscopy is a valuable biodiagnostic tool for the differential diagnosis of PEO with a high ability to also distinguish between single mtDNA deletion and mutations in POLG gene based on specific metabolic transitions.
2020
biomarkers; differential diagnosis; FTIR; metabolomics; mitochondrial diseases; MtDNA; oculopharyngeal muscular dystrophy (OPMD); personalized medicine; progressive external ophthalmoplegia (PEO)
01 Pubblicazione su rivista::01a Articolo in rivista
Fourier-transform infrared spectroscopy of skeletal muscle tissue: Expanding biomarkers in primary mitochondrial myopathies / Gervasoni, J.; Primiano, A.; Marini, F.; Sabino, A.; Biancolillo, A.; Calvani, R.; Picca, A.; Marzetti, E.; Persichilli, S.; Urbani, A.; Servidei, S.; Primiano, G.. - In: GENES. - ISSN 2073-4425. - 11:12(2020), pp. 1-8. [10.3390/genes11121522]
File allegati a questo prodotto
File Dimensione Formato  
Gervasoni_Fourier-Transform_2020.pdf

accesso aperto

Tipologia: Versione editoriale (versione pubblicata con il layout dell'editore)
Licenza: Creative commons
Dimensione 636.45 kB
Formato Adobe PDF
636.45 kB Adobe PDF

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1499967
Citazioni
  • ???jsp.display-item.citation.pmc??? 3
  • Scopus 6
  • ???jsp.display-item.citation.isi??? 4
social impact