Diagnosis of a model of Duchenne muscular dystrophy in blood serum of mdx mice using Raman hyperspectroscopy

Nicole M Ralbovsky,Igor K Lednev,Bijan K Dey,Paromita Dey,Andrew Galfano

doi:10.1038/s41598-020-68598-8

Nicole M Ralbovsky, Igor K Lednev + Show 3 more

Open Access

https://doi.org/10.1038/s41598-020-68598-8

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Abstract

Duchenne muscular dystrophy (DMD) is the most common and severe form of muscular dystrophy and affects boys in infancy or early childhood. Current methods for diagnosing DMD are often laborious, expensive, invasive, and typically diagnose the disease late in its progression. In an effort to improve the accuracy and ease of diagnosis, this study focused on developing a novel method for diagnosing DMD which combines Raman hyperspectroscopic analysis of blood serum with advanced statistical analysis. Partial least squares discriminant analysis was applied to the spectral dataset acquired from blood serum of a mouse model of Duchenne muscular dystrophy (mdx) and control mice. Cross-validation showed 95.2% sensitivity and 94.6% specificity for identifying diseased spectra. These results were verified via external validation, which achieved 100% successful classification accuracy at the donor level. This proof-of-concept study presents Raman hyperspectroscopic analysis of blood serum as an easy, fast, non-expensive, and minimally invasive detection method for distinguishing control and mdx model mice, with a strong potential for clinical diagnosis of DMD.

Highlights

Duchenne muscular dystrophy (DMD) is the most common and severe form of muscular dystrophy and affects boys in infancy or early childhood
Blood tests often monitor the level of serum creatine phosphokinase (CPK), this test can only detect the disease in later stages and is generally nonspecific, as high levels of CPK can be found in an individual’s blood after experiencing a heart attack, drinking alcohol in excess, or participating in strenuous exercise.[4,5,6,7,8,9]
Ease, and potential of an early diagnosis, we focused on developing a novel method for diagnosing DMD using Raman hyperspectroscopic analysis of mdx mouse blood serum combined with

Summary

Introduction

Duchenne muscular dystrophy (DMD) is the most common and severe form of muscular dystrophy and affects boys in infancy or early childhood. In an effort to improve the accuracy and ease of diagnosis, this study focused on developing a novel method for diagnosing DMD which combines Raman hyperspectroscopic analysis of blood serum with advanced statistical analysis. These results were verified via external validation, which achieved 100% successful classification accuracy at the donor level This proof-of-concept study presents Raman hyperspectroscopic analysis of blood serum as an easy, fast, non-expensive, and minimally invasive detection method for distinguishing control and mdx model mice, with a strong potential for clinical diagnosis of DMD. Ease, and potential of an early diagnosis, we focused on developing a novel method for diagnosing DMD using Raman hyperspectroscopic analysis of mdx mouse blood serum combined with. The dystrophin mutant mdx mice do not express dystrophin[13] and have been widely used as a model system to study DMD and to make important advances in understanding therapeutic strategies as well as the molecular processes and underlying causes of the disease.[2,14] The mdx mouse model serves as an efficient model for developing a better diagnostic method without influence from complications, such as the effect of prescribed medications, associated with humans

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