Hereditary inclusion-body myopathy: clues on pathogenesis and possible therapy

Aldobrando Broccolini, Massimiliano Mirabella, Teresa Gidaro, Roberta Morosetti

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

19 Citazioni (Scopus)

Abstract

Hereditary inclusion-body myopathy (h-IBM), or distal myopathy with rimmed vacuoles (DMRV), is an autosomal recessive disorder with onset in early adult life and a progressive course leading to severe disability. h-IBM/DMRV is due to mutations of a gene (GNE) that codes for a rate-limiting enzyme in the sialic acid biosynthetic pathway. Despite the identification of the causative gene defect, it has not been unambiguously clarified how GNE gene mutations impair muscle metabolism. Although numerous studies have indicated a key role of hyposialylation of glycoproteins in h-IBM/DMRV pathogenesis, others have demonstrated new and unpredicted functions of the GNE gene, outside the sialic acid biosynthetic pathway, that may also be relevant. This review illustrates the clinical and pathologic characteristics of h-IBM/DMRV and the main clues available to date concerning the possible pathogenic mechanisms and therapeutic perspectives of this disorder
Lingua originaleEnglish
pagine (da-a)340-349
Numero di pagine10
RivistaMUSCLE & NERVE
Volume40
Stato di pubblicazionePubblicato - 2009

Keywords

  • HIBM

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