A double blind, placebo controlled, crossover trial of d-ribose in McArdle's disease

Steele, I. C.; Patterson, Victor; Nicholls, D. P.

doi:10.1016/0022-510x(95)00320-2

Cited by 30 publications

(18 citation statements)

References 16 publications

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“…A comparison of RBKS expression profiles in humans and mice using publicly available data (NCBI UniGene Hs.11916 ) suggests that both humans and mice have low basal expression of RBKS in skeletal muscle. While we cannot directly extrapolate from this mouse model, the suggestion that D-ribose cannot be utilized by skeletal muscle tissue is in agreement with prior publications in humans showing that D-ribose has no effect on muscle function in healthy patients [15], [16], [17].…”

Section: Discussionsupporting

confidence: 90%

“…These results in our mouse disease model are consistent with other reports indicating that D-ribose has no effect on muscle performance in healthy patients or in patients with other metabolic diseases [15], [16], [17]. We also propose that low expression levels of the enzyme ribokinase may contribute to inefficient utilization of D-ribose in skeletal muscle.…”

Section: Introductionsupporting

confidence: 93%

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Daily Supplementation of D-ribose Shows No Therapeutic Benefits in the MHC-I Transgenic Mouse Model of Inflammatory Myositis

et al. 2013

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BackgroundCurrent treatments for idiopathic inflammatory myopathies (collectively called myositis) focus on the suppression of an autoimmune inflammatory response within the skeletal muscle. However, it has been observed that there is a poor correlation between the successful suppression of muscle inflammation and an improvement in muscle function. Some evidence in the literature suggests that metabolic abnormalities in the skeletal muscle underlie the weakness that continues despite successful immunosuppression. We have previously shown that decreased expression of a purine nucleotide cycle enzyme, adenosine monophosphate deaminase (AMPD1), leads to muscle weakness in a mouse model of myositis and may provide a mechanistic basis for muscle weakness. One of the downstream metabolites of this pathway, D-ribose, has been reported to alleviate symptoms of myalgia in patients with a congenital loss of AMPD1. Therefore, we hypothesized that supplementing exogenous D-ribose would improve muscle function in the mouse model of myositis. We treated normal and myositis mice with daily doses of D-ribose (4 mg/kg) over a 6-week time period and assessed its effects using a battery of behavioral, functional, histological and molecular measures.ResultsTreatment with D-ribose was found to have no statistically significant effects on body weight, grip strength, open field behavioral activity, maximal and specific forces of EDL, soleus muscles, or histological features. Histological and gene expression analysis indicated that muscle tissues remained inflamed despite treatment. Gene expression analysis also suggested that low levels of the ribokinase enzyme in the skeletal muscle might prevent skeletal muscle tissue from effectively utilizing D-ribose.ConclusionsTreatment with daily oral doses of D-ribose showed no significant effect on either disease progression or muscle function in the mouse model of myositis.

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Section: Discussionsupporting

confidence: 90%

Section: Introductionsupporting

confidence: 93%

Daily Supplementation of D-ribose Shows No Therapeutic Benefits in the MHC-I Transgenic Mouse Model of Inflammatory Myositis

et al. 2013

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“…Myophosphorylase deficiency deprives the body of a substrate for anaerobic glycolysis, which has led to the proposition that supplements before exercise improves exercise performance. One such supplement is ribose, but the effect on exercise capacity is disappointing [28]. Intravenous glucose is effective but impractical [15].…”

Section: Discussionmentioning

confidence: 99%

Oxygen consumption is increased relative to work rate in patients with McArdle's disease

O'Dochartaigh¹,

Ong²,

Lovell³

et al. 2004

Eur J Clin Investigation

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“…This can be achieved by: (1) adopting a diet with a high proportion (65%) of complex carbohydrates (vegetables, fruits, cereals, bread, pasta, and rice) and a low proportion (20%) of fat [Andersen and Vissing, ] and (2) ingesting simple carbohydrates, that is, 30–40 g of glucose, fructose, or sucrose in adults some 5 min before engaging in strenuous exercise (e.g., brisk walking, hiking) [Mate‐Munoz et al., ; Andersen et al., ], which translates to ∼440 ml of most commercially available sport drinks, or 20 g in children before physical education classes [Perez et al., ]. On the other hand, no significant beneficial effects have been reported in McArdle patients receiving branched chain amino acids [MacLean et al., ], depot glucagon [Day and Mastaglia, ], dantrolene sodium [Poels et al., ], verapamil [Lane et al., ], vitamin B6 [Phoenix et al., ] (except in one recent case report [Sato et al., ]), or high‐dose oral ribose [Steele et al., ]. More controversial are the effects of creatine supplementation: low‐dose supplementation (60 mg/kg per day for 4 weeks) attenuated muscle complaints in five of nine McArdle patients [Vorgerd et al., ], but higher doses (150 mg/kg per day) exacerbated exercise‐induced myalgia for unknown reasons [Vorgerd et al., ].…”

Section: Introductionmentioning

confidence: 99%

McArdle Disease: Update of Reported Mutations and Polymorphisms in thePYGMGene

et al. 2015

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McArdle disease is an autosomal-recessive disorder caused by inherited deficiency of the muscle isoform of glycogen phosphorylase (or "myophosphorylase"), which catalyzes the first step of glycogen catabolism, releasing glucose-1-phosphate from glycogen deposits. As a result, muscle metabolism is impaired, leading to different degrees of exercise intolerance. Patients range from asymptomatic to severely affected, including in some cases, limitations in activities of daily living. The PYGM gene codifies myophosphoylase and to date 147 pathogenic mutations and 39 polymorphisms have been reported. Exon 1 and 17 are mutational hot-spots in PYGM and 50% of the described mutations are missense. However, c.148C>T (commonly known as p.R50X) is the most frequent mutation in the majority of the studied populations. No genotype-phenotype correlation has been reported and no mutations have been described in the myophosphorylase domains affecting the phosphorylated Ser-15, the 280's loop, the pyridoxal 5'-phosphate, and the nucleoside inhibitor binding sites. A newly generated knock-in mouse model is now available, which renders the main clinical and molecular features of the disease. Well-established methods for diagnosing patients in laboratories around the world will shorten the frequent ∼20-year period stretching from first symptoms appearance to the genetic diagnosis.

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A double blind, placebo controlled, crossover trial of d-ribose in McArdle's disease

Cited by 30 publications

References 16 publications

Daily Supplementation of D-ribose Shows No Therapeutic Benefits in the MHC-I Transgenic Mouse Model of Inflammatory Myositis

Daily Supplementation of D-ribose Shows No Therapeutic Benefits in the MHC-I Transgenic Mouse Model of Inflammatory Myositis

Oxygen consumption is increased relative to work rate in patients with McArdle's disease

McArdle Disease: Update of Reported Mutations and Polymorphisms in thePYGMGene

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