The pattern of urinary catecholamines and their metabolites in Duchenne myopathy, in relation to disease evolution

Dalmaz, Y.; Peyrin, L; Mamelle, J C; Tuil, David; Gilly, R; Cier, J F

doi:10.1007/bf01243426

Cited by 14 publications

(7 citation statements)

References 42 publications

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“…In particular, catecholamines and their metabolites were shown to be increased in experimental and clinical MDs [17,38,39]. Moreover, the alteration in catecholamine metabolism was shown to correlate with disease severity [17], in keeping with the present observation that in patient 3 a lower MAO expression and activity are associated with a less severe cellular phenotype.…”

Section: Discussionsupporting

confidence: 81%

“…Many chronic diseases are characterized by an increased level of catecholamines, and this may include MD. For instance, in Duchenne patients the urinary catecholamine levels were found to be increased [17]. Of note, in a pioneer study a model of MD was obtained by serotonin administration associated with imipramine, an inhibitor of monoamine reuptake [18].…”

Section: Introductionmentioning

confidence: 99%

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Monoamine oxidase inhibition prevents mitochondrial dysfunction and apoptosis in myoblasts from patients with collagen VI myopathies

Sorato

Menazza

Zulian

et al. 2014

Free Radical Biology and Medicine

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Although mitochondrial dysfunction and oxidative stress have been proposed to play a crucial role in several types of muscular dystrophy (MD), whether a causal link between these two alterations exists remains an open question. We have documented that mitochondrial dysfunction through opening of the permeability transition pore plays a key role in myoblasts from patients as well as in mouse models of MD, and that oxidative stress caused by monoamine oxidases (MAO) is involved in myofiber damage. In the present study we have tested whether MAO-dependent oxidative stress is a causal determinant of mitochondrial dysfunction and apoptosis in myoblasts from patients affected by collagen VI myopathies. We find that upon incubation with hydrogen peroxide or the MAO substrate tyramine myoblasts from patients upregulate MAO-B expression and display a significant rise in reactive oxygen species (ROS) levels, with concomitant mitochondrial depolarization. MAO inhibition by pargyline significantly reduced both ROS accumulation and mitochondrial dysfunction, and normalized the increased incidence of apoptosis in myoblasts from patients. Thus, MAO-dependent oxidative stress is causally related to mitochondrial dysfunction and cell death in myoblasts from patients affected by collagen VI myopathies, and inhibition of MAO should be explored as a potential treatment for these diseases.

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Section: Discussionsupporting

confidence: 81%

Section: Introductionmentioning

confidence: 99%

Monoamine oxidase inhibition prevents mitochondrial dysfunction and apoptosis in myoblasts from patients with collagen VI myopathies

Sorato

Menazza

Zulian

et al. 2014

Free Radical Biology and Medicine

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“…This adaptation of the heart is achieved by the activation of the sympathoadrenergic system (SAS) [36]. Thus, increased sympathetic activity stimulates the adrenal medulla to produce and secrete increased amounts of adrenaline and noradrenaline, as seen in the study of Dalmaz et al [37] in which the authors found increased amounts of urinary catecholamine, mainly in a late stage of DMD, so this increase in catecholamines seems to happen secondary to the disease and probably as a compensatory way to improve the decreased HRV.…”

Section: Hrv and Catecholaminesmentioning

confidence: 98%

Heart Rate Variability and Cardiopulmonary Dysfunction in Patients with Duchenne Muscular Dystrophy: A Systematic Review

et al. 2018

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Duchenne muscular dystrophy (DMD) is a genetic recessive disorder with progressive muscle weakness. Despite the general muscle wasting, degeneration and necrosis of cardiomyocytes have been the main causes of morbidity and death in individuals with DMD. Cardiac failure is generally preceded by disturbances in heart rate variability (HRV), and non-invasive measurement of the autonomic nervous system has been an important tool to predict adverse cardiovascular events. Hence, the application of HRV to study autonomic modulation in DMD individuals, and the establishment of correlations between HRV and heart/lung diseases, age, and mortality will have the potential to improve quality of life and life expectancy of individuals with DMD. In order to evaluate the state of the art in this field, we conducted a systematic search in Medline/PubMed and BVS (virtual library in health) databases. We selected 8 studies using pre-defined criteria and meta-analysis revealed decreased parasympathetic activity and increased sympathetic predominance in individuals with DMD as major observations. Moreover, there is a strong association between diminished HRV and myocardial fibrosis with DMD. These patterns are evident in patients at early-stage DMD and become more prominent as disease severity and age increase. Thus, data minning clearly indicates that HRV assessment can be used as a predictor for sudden death in individuals with DMD. The use of the HRV, which is inexpensive, ubiquitously available in clinics and hospitals, and a non-invasive analysis tool, can save lives and decrease the morbity in DMD by alerting care givers to consider autonomic nervous system intervention.

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“…The level or pattern of some useful biomarkers such as prostaglandin D2 (PGD2) and its metabolites [50] or catecholamines and methoxylated amines [51], may serve as additional hints.…”

Section: General Dmd Diagnosismentioning

confidence: 99%

The multifaceted view of heart problem in Duchenne muscular dystrophy

Florczyk-Soluch

Polak

Dulak

2021

Cell. Mol. Life Sci.

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Dystrophin is a large protein serving as local scaffolding repetitively bridging cytoskeleton and the outside of striated muscle cell. As such dystrophin is a critical brick primarily in dystrophin-associated protein complex (DAGC) and in a larger submembranous unit, costamere. Accordingly, the lack of functional dystrophin laying at the root of Duchenne muscular dystrophy (DMD) drives sarcolemma instability. From this point on, the cascade inevitably leading to the death of myocyte begins. In cardiomyocytes, intracellular calcium overload and related mitochondrial-mediated cell death mainly contribute to myocardial dysfunction and dilation while other protein dysregulation and/or mislocalization may affect electrical conduction system and favor arrhythmogenesis. Although clinically DMD manifests as progressive muscle weakness and skeletal muscle symptoms define characteristic of DMD, it is the heart problem the biggest challenge that most often develop in the form of dilated cardiomyopathy (DCM). Current standards of treatment and recent progress in respiratory care, introduced in most settings in the 1990s, have improved quality of life and median life expectancy to 4th decade of patient’s age. At the same time, cardiac causes of death related to DMD increases. Despite preventive and palliative cardiac treatments available, the prognoses remain poor. Direct therapeutic targeting of dystrophin deficiency is critical, however, hindered by the large size of the dystrophin cDNA and/or stochastic, often extensive genetic changes in DMD gene. The correlation between cardiac involvement and mutations affecting specific dystrophin isoforms, may provide a mutation-specific cardiac management and novel therapeutic approaches for patients with CM. Nonetheless, the successful cardiac treatment poses a big challenge and may require combined therapy to combat dystrophin deficiency and its after-effects (critical in DMD pathogenesis). This review locates the multifaceted heart problem in the course of DMD, balancing the insights into basic science, translational efforts and clinical manifestation of dystrophic heart disease.

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The pattern of urinary catecholamines and their metabolites in Duchenne myopathy, in relation to disease evolution

Cited by 14 publications

References 42 publications

Monoamine oxidase inhibition prevents mitochondrial dysfunction and apoptosis in myoblasts from patients with collagen VI myopathies

Monoamine oxidase inhibition prevents mitochondrial dysfunction and apoptosis in myoblasts from patients with collagen VI myopathies

Heart Rate Variability and Cardiopulmonary Dysfunction in Patients with Duchenne Muscular Dystrophy: A Systematic Review

The multifaceted view of heart problem in Duchenne muscular dystrophy

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