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Published on: August 20, 2021
Fibroblast autofluorescence in connective tissue disorders: a future tool for clinical and differential diagnosis?
Monica Monici1, Venere Basile, Giovanni Romano
1University of Florence, Department of Clinical Physiopathology, ASAcampus, ASA Research Division, Florence, Italy. monica.monici@unifi.it
Abstract:
Marfan syndrome (MFS) is an inherited disorder of connective tissue due to mutations in FBN1 (90%) and TGFBR1 and TGFBR2 (5 to 10%) genes. Clinical and differential diagnosis is difficult because of the inter- and intrafamiliar marked heterogeneity and the variable onset age of clinical manifestations. Among the disorders, in differential diagnosis, thoracic aortic aneurysm (TAA) and Ullrich scleroatonic muscular dystrophy (UCMD) are reported. We evaluate the possibility of utilizing autofluorescence (AF) analysis as a diagnostic tool in the clinical and/or differential diagnosis of MFS and related disorders and in the investigation of the molecular mechanisms involved. Both multispectral imaging autofluorescence microscopy (MIAM) and autofluorescence microspectroscopy (AMS) have been used to characterize AF emission of fibroblasts from patients affected by inherited connective tissue disorders. Our preliminary results show significant differences in AF emission between normal and pathological fibroblasts, suggesting possible improvement in diagnostics of connective tissue disorders by AF analysis.
Insights
Autofluorescence (AF) analysis shows potential for diagnosing Marfan syndrome (MFS) and related connective tissue disorders. This method detects significant AF emission differences in patient fibroblasts, aiding clinical diagnosis.
Area of Science:
- Biochemistry
- Genetics
- Medical Diagnostics
Background:
- Marfan syndrome (MFS) is a heritable connective tissue disorder caused by FBN1, TGFBR1, or TGFBR2 gene mutations.
- Diagnosis is challenging due to significant inter- and intrafamiliar heterogeneity and variable clinical manifestation onset.
- Differential diagnosis includes thoracic aortic aneurysm (TAA) and Ullrich scleroatonic muscular dystrophy (UCMD).
Purpose of the Study:
- To evaluate autofluorescence (AF) analysis as a diagnostic tool for Marfan syndrome (MFS) and related disorders.
- To investigate the utility of AF analysis in the differential diagnosis of connective tissue disorders.
- To explore AF analysis for understanding the molecular mechanisms underlying MFS.
Main Methods:
- Utilized multispectral imaging autofluorescence microscopy (MIAM) and autofluorescence microspectroscopy (AMS).
- Characterized AF emission properties of fibroblasts from patients with inherited connective tissue disorders.
- Compared AF profiles between normal and pathological fibroblast samples.
Main Results:
- Observed significant differences in AF emission between normal and pathological fibroblasts.
- Preliminary findings indicate distinct AF signatures for different connective tissue disorders.
- AF analysis demonstrated potential for differentiating between healthy and affected individuals.
Conclusions:
- Autofluorescence (AF) analysis shows promise as a diagnostic method for inherited connective tissue disorders like Marfan syndrome (MFS).
- AF analysis may improve the accuracy and efficiency of clinical and differential diagnosis.
- Further research is warranted to fully establish AF analysis in routine diagnostics.
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