Muscle fatigue, nNOS and muscle fiber atrophy in limb girdle muscular dystrophy

Corrado Angelini, Elisabetta Tasca, Anna Chiara Nascimbeni, Marina Fanin

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

Muscle fatigability and atrophy are frequent clinical signs in limb girdle muscular dystrophy (LGMD), but their pathogenetic mechanisms are still poorly understood. We review a series of different factors that may be connected in causing fatigue and atrophy, particularly considering the role of neuronal nitric oxide synthase (nNOS) and additional factors such as gender in different forms of LGMD (both recessive and dominant) underlying different pathogenetic mechanisms. In sarcoglycanopathies, the sarcolemmal nNOS reactivity varied from absent to reduced, depending on the residual level of sarcoglycan complex: in cases with complete sarcoglycan complex deficiency (mostly in beta-sarcoglycanopathy), the sarcolemmal nNOS reaction was absent and it was always associated with early severe clinical phenotype and cardiomyopathy. Calpainopathy, dysferlinopathy, and caveolinopathy present gradual onset of fatigability and had normal sarcolemmal nNOS reactivity. Notably, as compared with caveolinopathy and sarcoglycanopathies, calpainopathy and dysferlinopathy showed a higher degree of muscle fiber atrophy. Males with calpainopathy and dysferlinopathy showed significantly higher fiber atrophy than control males, whereas female patients have similar values than female controls, suggesting a gender difference in muscle fiber atrophy with a relative protection in females. In female patients, the smaller initial muscle fiber size associated to endocrine factors and less physical effort might attenuate gender-specific muscle loss and atrophy.

Original languageEnglish
Pages (from-to)119-126
Number of pages8
JournalActa Myologica
Volume33
Issue number3
Publication statusPublished - Dec 1 2015

Fingerprint

Limb-Girdle Muscular Dystrophies
Nitric Oxide Synthase Type I
Muscle Fatigue
Muscular Atrophy
Sarcoglycanopathies
Sarcoglycans
Atrophy
Physical Exertion
Cardiomyopathies
Fatigue
Phenotype
Muscles
Limb-girdle muscular dystrophy type 2A
Dysferlinopathy

Keywords

  • LGMD
  • NNOS
  • Sarcoglycan

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Angelini, C., Tasca, E., Nascimbeni, A. C., & Fanin, M. (2015). Muscle fatigue, nNOS and muscle fiber atrophy in limb girdle muscular dystrophy. Acta Myologica, 33(3), 119-126.

Muscle fatigue, nNOS and muscle fiber atrophy in limb girdle muscular dystrophy. / Angelini, Corrado; Tasca, Elisabetta; Nascimbeni, Anna Chiara; Fanin, Marina.

In: Acta Myologica, Vol. 33, No. 3, 01.12.2015, p. 119-126.

Research output: Contribution to journalArticle

Angelini, C, Tasca, E, Nascimbeni, AC & Fanin, M 2015, 'Muscle fatigue, nNOS and muscle fiber atrophy in limb girdle muscular dystrophy', Acta Myologica, vol. 33, no. 3, pp. 119-126.
Angelini C, Tasca E, Nascimbeni AC, Fanin M. Muscle fatigue, nNOS and muscle fiber atrophy in limb girdle muscular dystrophy. Acta Myologica. 2015 Dec 1;33(3):119-126.
Angelini, Corrado ; Tasca, Elisabetta ; Nascimbeni, Anna Chiara ; Fanin, Marina. / Muscle fatigue, nNOS and muscle fiber atrophy in limb girdle muscular dystrophy. In: Acta Myologica. 2015 ; Vol. 33, No. 3. pp. 119-126.
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