Hereditary inclusion-body myopathy with sparing of the quadriceps: the many tiles of an incomplete puzzle

Aldobrando Broccolini, Massimiliano Mirabella, Teresa Gidaro, Roberta Morosetti, Cristina Sancricca

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

14 Citazioni (Scopus)

Abstract

The hereditary inclusion-body myopathies encompass several syndromes with autosomal recessive or dominant inheritance. Despite a different clinical presentation they all have a progressive course leading to severe disability and share similar pathologic findings at the muscle biopsy. Quadriceps-sparing autosomal recessive hereditary inclusion-body myopathy (h-IBM) is the commonest form and is tied to mutations of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (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 clarified how mutations of the GNE gene impair muscle homeostasis. Although several lines of evidence argue in favor of an abnormal sialylation of muscle glycoproteins playing a key role in h-IBM pathogenesis, others studies have demonstrated new 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 and the main clues available to date concerning the possible pathogenic mechanisms of this disorder. Understanding the molecular mechanism underlying h-IBM pathology is a fundamental requisite to plan a future attempt to therapy.
Lingua originaleEnglish
pagine (da-a)91-95
Numero di pagine5
RivistaActa Myologica
Volume30
Stato di pubblicazionePubblicato - 2011

Keywords

  • Disease Progression
  • Humans
  • Inclusion Bodies
  • Inheritance Patterns
  • Multienzyme Complexes
  • Mutation
  • Myositis, Inclusion Body
  • Quadriceps Muscle
  • Sialic Acids

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