Neurotherapeutics. 2008 Oct;5(4):633-7.

The hereditary inclusion body myopathy enigma and its future therapy.

Source

Department of Neurology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. zohara@ekmd.huji.ac.il

Abstract

Hereditary inclusion body myopathy (HIBM) is a genetic muscle disease due to mutations in the gene encoding the enzyme complex UDP-N-acetylglucosamine 2 epimerase-N-acetylmannosamine kinase (GNE), which catalyzes the rate-limiting step in sialic acid production. The review describes some of the disease features that may be relevant for further understanding of the metabolic impairment of HIBM and its future therapy. It also addresses the biochemical basis behind the substrate supplementation therapy designed for this condition.

PMID:: 19019317; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms, Substances

Publication Types

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

Other Literature Sources

Labome Researcher Resource - ExactAntigen/Labome

Medical

Supplemental Content

Save items

Related citations in PubMed

Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy. [Glycobiology. 2005]
Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy.
Sparks SE, Ciccone C, Lalor M, Orvisky E, Klootwijk R, Savelkoul PJ, Dalakas MC, Krasnewich DM, Gahl WA, Huizing M. Glycobiology. 2005 Nov; 15(11):1102-10. Epub 2005 Jun 29.
Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. [Neurology. 2002]
Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.
Nishino I, Noguchi S, Murayama K, Driss A, Sugie K, Oya Y, Nagata T, Chida K, Takahashi T, Takusa Y, et al. Neurology. 2002 Dec 10; 59(11):1689-93.
GNE protein expression and subcellular distribution are unaltered in HIBM. [Neurology. 2007]
GNE protein expression and subcellular distribution are unaltered in HIBM.
Krause S, Aleo A, Hinderlich S, Merlini L, Tournev I, Walter MC, Argov Z, Mitrani-Rosenbaum S, Lochmüller H. Neurology. 2007 Aug 14; 69(7):655-9.
Review Regulation and pathophysiological implications of UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) as the key enzyme of sialic acid biosynthesis. [Biol Chem. 2009]
Review Regulation and pathophysiological implications of UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) as the key enzyme of sialic acid biosynthesis.
Reinke SO, Lehmer G, Hinderlich S, Reutter W. Biol Chem. 2009 Jul; 390(7):591-9.
Review Magnesium may help patients with recessive hereditary inclusion body myopathy, a pathological review. [Med Hypotheses. 2003]
Review Magnesium may help patients with recessive hereditary inclusion body myopathy, a pathological review.
Darvish D. Med Hypotheses. 2003 Jan; 60(1):94-101.

See reviews... See all...

Cited by 1 PubMed Central article

Review Metabolic manipulation of glycosylation disorders in humans and animal models. [Semin Cell Dev Biol. 2010]
Review Metabolic manipulation of glycosylation disorders in humans and animal models.
Freeze HH, Sharma V. Semin Cell Dev Biol. 2010 Aug; 21(6):655-62. Epub 2010 Apr 2.

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.
Cited in Books
NCBI Bookshelf books that cite the current articles.

Recent activity

Clear Turn Off Turn On

The hereditary inclusion body myopathy enigma and its future therapy.
The hereditary inclusion body myopathy enigma and its future therapy.
Neurotherapeutics. 2008 Oct ;5(4):633-7.

PubMed
Treatment of neuromuscular channelopathies: current concepts and future prospect...
Treatment of neuromuscular channelopathies: current concepts and future prospects.
Neurotherapeutics. 2008 Oct ;5(4):607-12.

PubMed
Therapeutic approaches in glycogen storage disease type II/Pompe Disease.
Therapeutic approaches in glycogen storage disease type II/Pompe Disease.
Neurotherapeutics. 2008 Oct ;5(4):569-78.

PubMed
Idiopathic inflammatory myopathies: current and future therapeutic options.
Idiopathic inflammatory myopathies: current and future therapeutic options.
Neurotherapeutics. 2008 Oct ;5(4):548-57.

PubMed
Experimental therapeutics in hereditary neuropathies: the past, the present, and...
Experimental therapeutics in hereditary neuropathies: the past, the present, and the future.
Neurotherapeutics. 2008 Oct ;5(4):507-15.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: