Fourier-Transform Infrared Spectroscopy of Skeletal Muscle Tissue: Expanding Biomarkers in Primary Mitochondrial Myopathies

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.

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Detection of bloodstains using attenuated total reflectance-Fourier transform infrared spectroscopy supported with PCA and PCA–LDA

Medicine Science and the Law ◽

10.1177/00258024211010926 ◽

2021 ◽

pp. 002580242110109

Author(s):

Sweety Sharma ◽

Rito Chophi ◽

Jaskirandeep Kaur Jossan ◽

Rajinder Singh

Keyword(s):

Fourier Transform ◽

Ftir Spectroscopy ◽

Body Fluid ◽

Due Process ◽

Dna Analysis ◽

Fourier Transform Infrared ◽

Body Fluids ◽

Attenuated Total Reflectance ◽

Total Reflectance ◽

Non Destructive

The most important task in a criminal investigation is to detect and identify the recovered biological stains beyond reasonable scientific doubt and preserve the sample for further DNA analysis. In the light of this fact, many presumptive and confirmatory tests are routinely employed in the forensic laboratories to determine the type of body fluid. However, the currently used techniques are specific to one type of body fluid and hence it cannot be utilized to differentiate multiple body fluids. Moreover, these tests consume the samples in due process, and thus it becomes a great limitation especially considering the fact that samples are recovered in minute quantity in forensic cases. Therefore, such limitations necessitate the use of non-destructive techniques that can be applied simultaneously to all types of bodily fluids and allow sample preservation for further analysis. In the current work, attenuated total reflectance-Fourier transform infrared (ATR-FTIR) spectroscopy has been used to circumvent the aforementioned limitations. The important factors which could influence the detection of blood such as the effect of substrates, washing/chemical treatment, ageing, and dilution limits on the analysis of blood have been analysed. In addition, blood discrimination from non-blood substance (biological and non-biological in nature) has also been studied. Chemometric technique that is PCA–LDA has been used to discriminate blood from other body fluids and it resulted in 100% accurate classification. Furthermore, blood and non-blood substances including fake blood have also been classified into separate clusters with a 100% accuracy, sensitivity, and specificity. All-inclusive, this preliminary study substantiates the potential application of ATR-FTIR spectroscopy for the non-destructive identification of blood traces in simulated forensic casework conditions with 0% rate of false classification.

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