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Multivoxel proton magnetic resonance spectroscopy in facioscapulohumeral muscular dystrophy.

ABSTRACT: INTRODUCTION:Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary disorder that causes progressive muscle wasting. This study evaluates the use of proton magnetic resonance spectroscopy (1 H MRS) as a biomarker of muscle strength and function in FSHD. METHODS:Thirty-six individuals with FSHD and 15 healthy controls underwent multivoxel 1 H MRS of a cross-section of the mid-thigh. Concentrations of creatine, intramyocellular and extramyocellular lipids, and trimethylamine (TMA)-containing compounds in skeletal muscle were calculated. Metabolite concentrations for individuals with FSHD were compared with those of controls. The relationship between metabolite concentrations and muscle strength was also examined. RESULTS:The TMA/creatine (Cr) ratio in individuals with FSHD was reduced compared with controls. The TMA/Cr ratio in the hamstrings also showed a moderate linear correlation with muscle strength. DISCUSSION:1 H MRS offers a potential method of detecting early muscle pathology in FSHD prior to the development of fat infiltration. Muscle Nerve 57: 958-963, 2018.

SUBMITTER: Leung DG

PROVIDER: S-EPMC5951728 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature

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Multivoxel proton magnetic resonance spectroscopy in facioscapulohumeral muscular dystrophy.

Leung Doris G DG Wang Xin X Barker Peter B PB Carrino John A JA Wagner Kathryn R KR

Muscle & nerve 20180214 6

<h4>Introduction</h4>Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary disorder that causes progressive muscle wasting. This study evaluates the use of proton magnetic resonance spectroscopy (<sup>1</sup> H MRS) as a biomarker of muscle strength and function in FSHD.<h4>Methods</h4>Thirty-six individuals with FSHD and 15 healthy controls underwent multivoxel <sup>1</sup> H MRS of a cross-section of the mid-thigh. Concentrations of creatine, intramyocellular and extramyocellular lipid ...[more]

PMID: 29266323

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Project description:BackgroundFacioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies and is characterized by a non-conventional genetic mechanism activated by pathogenic D4Z4 repeat contractions. By muscle Magnetic Resonance Imaging (MRI) we observed that T2-short tau inversion recovery (T2-STIR) sequences identify two different conditions in which each muscle can be found before the irreversible dystrophic alteration, marked as T1-weighted sequence hyperintensity, takes place. We studied these conditions in order to obtain further information on the molecular mechanisms involved in the selective wasting of single muscles or muscle groups in this disease.MethodsHistopathology, gene expression profiling and real time PCR were performed on biopsies from FSHD muscles with different MRI pattern (T1-weighted normal/T2-STIR normal and T1-weighted normal/T2-STIR hyperintense). Data were compared with those from inflammatory myopathies, dysferlinopathies and normal controls. In order to validate obtained results, two additional FSHD samples with different MRI pattern were analyzed.ResultsMyopathic and inflammatory changes characterized T2-STIR hyperintense FSHD muscles, at variance with T2-STIR normal muscles. These two states could be easily distinguished from each other by their transcriptional profile. The comparison between T2-STIR hyperintense FSHD muscles and inflammatory myopathy muscles showed peculiar changes, although many alterations were shared among these conditions.ConclusionsAt the single muscle level, different stages of the disease correspond to the two MRI patterns. T2-STIR hyperintense FSHD muscles are more similar to inflammatory myopathies than to T2-STIR normal FSHD muscles or other muscular dystrophies, and share with them upregulation of genes involved in innate and adaptive immunity. Our data suggest that selective inflammation, together with perturbation in biological processes such as neoangiogenesis, lipid metabolism and adipokine production, may contribute to the sequential bursts of muscle degeneration that involve individual muscles in an asynchronous manner in this disease.

Dataset Information

Multivoxel proton magnetic resonance spectroscopy in facioscapulohumeral muscular dystrophy.

Publications

Multivoxel proton magnetic resonance spectroscopy in facioscapulohumeral muscular dystrophy.

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