関: muscle form glycogen phosphorylase

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/08/04 13:37:47」(JST)

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Myophosphorylase is the muscle isoform of the enzyme glycogen phosphorylase.

This enzyme helps break down glycogen (a form of stored carbohydrate) into glucose-1-phosphate, (not glucose) so that it can be utilized within the muscle cell.

A deficiency is associated with Glycogen storage disease type V, also known as "McArdle's Syndrome".

A case study suggested that a deficiency in myophosphorylase may be linked with cognitive impairment. Besides muscle, this isoform is present in astrocytes, where it plays a key role in neural energy metabolism. A 55-year old woman with McArdle disease has expressed cognitive impairment with bilateral dysfunction of prefrontal and frontal cortex. Further studies are needed to assess the validity of this claim.^[2]

References

^ "RCSB Protein Data Bank - Structure Summary for 3MSC - Glycogen phosphorylase complexed with 2-nitrobenzaldehyde-4-(beta-D-glucopyranosyl)-thiosemicarbazone".
^ Mancuso M, Orsucci D, Volterrani D, Siciliano G (March 2011). "Cognitive impairment and McArdle disease: Is there a link?". Neuromuscul Disord 21 (5): 356–8. doi:10.1016/j.nmd.2011.02.013. PMID 21382715.

External links

Myophosphorylase at the US National Library of Medicine Medical Subject Headings (MeSH)

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1. 筋ホスホリラーゼ欠損症（糖原病V型、マッカードル病） myophosphorylase deficiency glycogen storage disease v mcardle disease
2. 代謝性ミオパチーへのアプローチ approach to the metabolic myopathies
3. グルコースおよびグリコーゲン代謝の遺伝性疾患の概要 overview of inherited disorders of glucose and glycogen metabolism
4. 悪性高熱症の易罹患性：評価およびマネージメント susceptibility to malignant hyperthermia evaluation and management
5. 呼吸困難患者へのアプローチ approach to the patient with dyspnea

English Journal

Proteomics analysis in frozen horse mackerel previously high-pressure processed.

Pazos M1, Méndez L1, Vázquez M2, Aubourg SP3.
Food chemistry.Food Chem.2015 Oct 15;185:495-502. doi: 10.1016/j.foodchem.2015.03.144. Epub 2015 Apr 4.
The effect of high-pressure processing (HPP) (150, 300 and 450 MPa for 0, 2.5 and 5 min) on total sodium dodecyl sulphate (SDS)-soluble and sarcoplasmic proteins in frozen (-10 °C for 3 months) horse mackerel (Trachurus trachurus) was evaluated. Proteomics tools based on image analysis of SDS-PAGE
PMID 25952898

Lactate and Energy Metabolism During Exercise in Patients With Blocked Glycogenolysis (McArdle Disease).

Ørngreen MC1, Jeppesen TD1, Taivassalo T1, Hauerslev S1, Preisler N1, Heinicke K1, Haller RG1, Vissing J1, van Hall G1.
The Journal of clinical endocrinology and metabolism.J Clin Endocrinol Metab.2015 Aug;100(8):E1096-104. doi: 10.1210/jc.2015-1339. Epub 2015 Jun 1.
CONTEXT: Patients with blocked muscle glycogen breakdown (McArdle disease) have severely reduced exercise capacity compared to healthy individuals and are not assumed to produce lactate during exercise.OBJECTIVES: The objectives were: 1) to quantify systemic and muscle lactate kinetics and oxidation
PMID 26030324

McArdle disease: 2 case reports.

Diez Morrondo C1, Pantoja Zarza L2, San Millán Tejado B3.
Reumatologia clinica.Reumatol Clin.2015 Jul 30. pii: S1699-258X(15)00113-8. doi: 10.1016/j.reuma.2015.06.003. [Epub ahead of print]
A high serum level of creatine kinase (CK) is a common reason for referring to medical specialities. Myopathies are one of the causes of elevated levels of CK. McArdle disease is the most common disorder of skeletal muscle carbohydrate metabolism. The cases are presented on 2 patients who were refer
PMID 26235145

Japanese Journal

A Case of McArdle Disease: Efficacy of Vitamin B6 on Fatigability and Impaired Glycogenolysis

Izumi Rumiko,Suzuki Naoki,Kato Kazuhiro,Warita Hitoshi,Tateyama Maki,Nakashima Ichiro,Itoyama Yasuto
Internal Medicine 49(15), 1623-1625, 2010
… McArdle disease is a glycogenetic myopathy caused by a deficit of myophosphorylase inherited in an autosomal recessive pattern. …
NAID 130000299591

Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase gene and deoxyguanosine kinase genes

MANCUSO M
Arch Neurol 60, 1445-1447, 2003
NAID 30005408043

Creatine therapy in myophosphorylase deficiency (McArdle disease) : a placebo-controlled crossover trial

VORGERD M.
Arch Neurol 57, 956-963, 2000
NAID 30005406685

「筋ホスホリラーゼ」

phosphorylase, glycogen; muscle (McArdle syndrome, glycogen storage disease type V)
	Myophosphorylase
Identifiers
Symbol	PYGM
Entrez	5837
HUGO	9726
OMIM	608455
RefSeq	NM_005609
UniProt	P11217
Other data
Locus	Chr. 11 q12-q13.2