Nutritional Status Evaluation in Patients Affected by Bethlem Myopathy and Ullrich Congenital Muscular Dystrophy

Abstract

Collagen VI mutations lead to disabling myopathies like Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). We have investigated the nutritional and metabolic status of one UCMD and seven BM patients (five female, three male, mean age 31 ± 9 years) in order to find a potential metabolic target for nutritional intervention. For this study, we used standard anthropometric tools, such as BMI evaluation and body circumference measurements. All results were compared to dual-energy X-ray absorptiometry (DXA), considered the “gold standard” method. Energy intake of each patient was evaluated through longitudinal methods (7-day food diary) while resting energy expenditure (REE) was predicted using specific equations and measured by indirect calorimetry. Clinical evaluation included general and nutritional blood and urine laboratory analyses and quantitative muscle strength measurement by hand-held dynamometry. BM and UCMD patients showed an altered body composition, characterized by low free fat mass (FFM) and high fat mass (FM), allowing us to classify them as sarcopenic, and all but one as sarcopenic-obese. Another main result was the negative correlation between REE/FFM ratio (basal energy expenditure per kilograms of fat-free mass) and the severity of the disease, as defined by the muscle megascore (correlation coefficient −0.955, P-value <0.001). We postulate that the increase of the REE/FFM ratio in relation to the severity of the disease may be due to an altered and pathophysiological loss of energetic efficiency at the expense of skeletal muscle. We show that a specific metabolic disequilibrium is related to the severity of the disease, which may represent a target for a nutritional intervention in these patients.

Differences in Adipose Tissue and Lean Mass Distribution in Patients with Collagen VI Related Myopathies Are Associated with Disease Severity and Physical Ability

“…In all three groups of patients sarcopenia co-existed with obesity as previously described in adult patients ( Merlini et al, 2014 ). Also, similar to what other authors have reported, there was no deviation from normal in the mean BMI which may be explained by the loss of muscle mass and the fatty infiltration of skeletal muscle ( Toni et al, 2014 ) and which highlights the usefulness of the determination of total fat mass by DXA.…”

“…There are two other studies looking at body composition by DXA in patients with collagen VI deficiency although both look at the same cohort composed of one adult UCMD and seven adult BM patients ( Miscione et al, 2013 ; Toni et al, 2014 ). In those studies they use as the reference population a cohort of healthy individuals from the United States ( Kelly et al, 2009 ).…”

New targets for monitoring and therapy in Barth syndrome

“…Results were compared with validated, published normal controls, as has been done previously in similarly published cohort studies. [27][28][29] Manual muscle testing. After completion of the muscle strength testing via handheld dynamometry, manual muscle testing (MMT) was completed in the following muscle groups: hip flexors, knee extensors, hip abductors, hip extensors, and knee flexors bilaterally.…”

Modeling Adipogenesis: Current and Future Perspective

“…To address how ECM affects adipogenesis and adipocyte function, Type I collagen-based hydrogel can be utilized to mimic physiologically relevant adipogenic microenvironments, since it can be modified in terms of biophysical and biochemical properties [ 112 ]. Tissue culture plastic coated with type I collagen has been reported to enhance adipogenesis [ 113 ], while type VI collagen appears to restrict adipose expansion [ 114 ]. Interestingly, by blocking an attachment of integrin alpha 6 to laminin, it allowed differentiation of adipocytes due to sustained anti-adipogenic RhoA activity [ 115 ].…”