Peripheral nerve and vasculature involvement in myophosphorylase deficiency (mcardle’s disease)

Byard, Roger W.; Lach, Bolesław; Preston, David N.

doi:10.3109/00313029109061442

Cited by 8 publications

(3 citation statements)

References 10 publications

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“…From McArdle's disease patients lacking GP MM and showing glycogen accumulation in many cell types including fibroblasts [28] it may be deduced that the presence of GP MM in fibroblasts may not play a similarly vital role as the presence of GP BB in other cells. Analogous to the interstitial fibroblasts in the kidney [17] interstitial heart fibroblasts do not only surround the parenchymal cardiomyocytes, but also contact the capillaries supplying both cell types with oxygen and nutrients.…”

Section: Discussionmentioning

confidence: 97%

“…While GP BB is present in adult human skeletal muscle only in trace amounts [7], the co-existence of considerable amounts of GP BB with GP MM in heart muscle cells must be important for cardiac function. This becomes evident when GP MM is lacking: Patients suffering from Mc Ardles's disease accumulate excess glycogen in skeletal muscles, vascular smooth muscles, endothelial cells, fibroblasts, axons and Schwann cells [28]. However, they do not develop cardiac problems [29].…”

Section: Discussionmentioning

confidence: 98%

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Expression of the Brain and Muscle Isoforms of Glycogen Phosphorylase in Rat Heart

et al. 2008

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Heart glycogen represents a store of glucosyl residues which are mobilized by the catalysis of glycogen phosphorylase (GP) and are mainly destined to serve as substrates for the generation of ATP. The brain isoform of GP (GP BB) was studied in rat heart in comparison with the muscle isoform (GP MM) to find functional analogies to the brain. Western blotting and quantitative reverse transcriptase polymerase chain reaction (RT-PCR) experiments revealed that at the protein level, but not at the mRNA level, the content of GP BB is similar in heart and brain. In contrast, GP MM is more abundant in the heart than in the brain. Immunocytochemically GP BB was colocalized with GP MM in cardiomyocytes. GP MM was also detected in interstitial cells identified as fibroblasts. The physiological role of co-expression of GP BB and GP MM in cardiomyocytes and in brain astrocytes is discussed in a comparative way.

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Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 98%

Expression of the Brain and Muscle Isoforms of Glycogen Phosphorylase in Rat Heart

et al. 2008

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“…In one rare instance, Rubio et al [41] found that in addition to the subsarcolemmal accumulation of glycogen, the patient also exhibited subsarcolemmal oxidative accumulation of the succinate dehydrogenase enzyme due to association of MS and NADH-ubiquinone reductase dysfunction, which was possibly caused by the patient's severe condition. Glycogen accumulates not only at the muscle subsarcolemmal level, but also in other cells, such as axons and Schwann cells [42]. MS was also found to be associated with inclusion body myositis (IBM) [43] and myoadenylate deaminase deficiency [44].…”

Section: Implications For the Musclesmentioning

confidence: 96%

Neuromuscular, cognitive and metabolic implications of McArdle Syndrome: a global overview

Vieira

Soares

Felipe

et al. 2015

IJBAS

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Carbohydrates are the main source of body energy and they can be stored in the organism in form of glycogen and degraded when there is a need for energy. However, McArdle Syndrome patients exhibit problems to degrade glycogen due to a deficiency in myophosphorylase enzyme, making these patients intolerant to high intensity exercises because a lack of ATP available in muscle cells. It has been found muscular weakness and subsarcolemmal accumulation of glycogen in muscle fibers and in neuronal cells in McArdle Syndrome patients. In its later-onset form, it is associated to muscular dysmorphia, myoglobinuria and rhabdomyolisis. Analyzing the biochemical aspects, it is possible to notice that these patients have a low rate of ATP production due to a reduction in the availability of glucose, reducing oxidative phosphorylation. However, the metabolic "second wind" effect allows the use of other energy sources. Excessively decreased exercise-induced lactate is also characteristic of patients with McArdle Syndrome. Electromyography studies describe alterations in nerve conduction and the necessity of recruiting more motor units to contract muscle in these patients. McArdle Syndrome produces several metabolic changes in patients due to absence of myophophorylase activity. The practice of aerobic exercise acts positively in these patients probably by increasing mitochondrial metabolism.

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Dilative arteriopathy in metabolic myopathies, particularly Pompe’s disease

Finsterer

2012

Acta Neurol Belg

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There is increasing evidence that some metabolic myopathies are associated with dilative arteriopathy. This review aimed at summarizing recent findings concerning the pathogenesis, presentation, diagnosis and treatment of dilative arteriopathies in patients with metabolic myopathies. Dilative arteriopathy manifests as ectasia or aneurysms. Dilative arteriopathy most frequently occurs in patients with Pompe's disease. More rarely, dilative arteriopathy occurs in other glycogenoses or mitochondrial disorders. Complications of dilative arteriopathy may be intracerebral or subarachnoid bleeding, dissection of the arterial wall or ischemic stroke. Because of the often fatal complications, patients at risk for developing dilative arteriopathy should be screened for it as soon as the diagnosis of a metabolic myopathy has been established. Dilative arteriopathy is a phenotypic feature, particularly of Pompe's disease. Early recognition of ectasias and aneurysms and appropriate interventions by enzyme replacement therapy, stenting, coiling or surgery may prevent mild or severe cerebrovascular complications or even death in some of these patients.

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Peripheral nerve and vasculature involvement in myophosphorylase deficiency (mcardle’s disease)

Cited by 8 publications

References 10 publications

Expression of the Brain and Muscle Isoforms of Glycogen Phosphorylase in Rat Heart

Expression of the Brain and Muscle Isoforms of Glycogen Phosphorylase in Rat Heart

Neuromuscular, cognitive and metabolic implications of McArdle Syndrome: a global overview

Dilative arteriopathy in metabolic myopathies, particularly Pompe’s disease

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