Wtrętowe zapalenie mięśni: objawy kliniczne, diagnostyczne parametry biopsji mięśniowej i rozważania patogenetyczne

• Authors: Valerie Askanas , W. King Engel , Sławomir Wójcik

Title variants

EN

Inclusion-body myositis: clinical symptoms, diagnostic criteria of muscle biopsy and pathogenetic considerations

• Languages of publication: EN PL

Abstracts

EN

Sporadic inclusion-body myositis (s-IBM), the most common muscle disease of older persons, is of unknown cause, and there is no successful treatment. Interest in sporadic inclusion-body myositis has been enhanced by the recent identification within the s-IBM muscle fibers of several abnormally accumulated proteins, which provides novel and important clues to the pathogenesis of this disorder. Here we summarize the clinical presentation, molecular phenotype, diagnostic criteria, and the newest advances related to seeking the pathogenic mechanism(s) of s-IBM. On the basis of our research, several processes seem to be important in relation to the still speculative pathogenesis: 1) increased transcription and accumulation of amyloid-β precursor protein (AβPP), and accumulation of its proteolytic fragment Aβ; 2) abnormal accumulation of cholesterol and its related protein; 3) oxidative stress; 4) accumulations of intramuscle fiber multiprotein aggregates; 5) increased accumulation of myostatin within the muscle fiber and 6) evidence that unfolded/misfolded proteins participate in s-IBM pathogenesis. Our basic hypothesis is that overexpression of AβPP within the aging muscle fibers is an early upstream event causing a subsequent pathogenic cascade.

PL

Wtrętowe zapalenie mięśni (s-IBM) jest najczęstszą chorobą mięśni szkieletowych występującą u starszych osób. Przyczyna tej choroby pozostaje nieznana i jak dotąd brak jest skutecznego leczenia. Na wzrost zainteresowania s-IBM wpłynęło przede wszystkim odkrycie wewnątrz włókien mięśniowych wielu nadmiernie/nieprawidłowo gromadzonych białek, co pozwoliło na wyciągnięcie nowych wniosków dotyczących patogenezy tej choroby. W poniższej pracy podsumowujemy obraz kliniczny, charakterystyczne zmiany patologiczne oraz kryteria diagnostyczne. Na bazie naszych doświadczeń wskazujemy również na kilka zjawisk, które wydają się szczególnie istotne w patogenezie s-IBM. Zaliczyć do nich należy: 1) zwiększoną transkrypcję i nadmierne gromadzenie białka prekursorowego β-amyloidu (AβPP) oraz gromadzenie jego fragmentu β-amyloidu; 2) nieprawidłowe gromadzenie cholesterolu i związanych z nim białek; 3) stres oksydacyjny; 4) gromadzenie wewnątrz włókien mięśniowych wielobiałkowych agregatów; 5) nadmierne gromadzenie miostatyny wewnątrz włókien mięśniowych oraz 6) dowody na to, że białka, które nie posiadają prawidłowej, natywnej konformacji, odgrywają rolę w patogenezie s-IBM. Zgodnie z naszą główną hipotezą nadmierna ekspresja AβPP wewnątrz starzejących się włókien mięśniowych zapoczątkowuje patogenetyczną kaskadę s-IBM.

Keywords

EN

amyloid-β; diagnostic criteria; kryteria diagnostyczne; pathogenesis; patogeneza; s-IBM; sporadic inclusion-body myositis; wtrętowe zapalenie mięśni; β-amyloid

Discipline

• MEDICINE: MEDICINE

• Publisher: Medical Communications
• Journal: Aktualności Neurologiczne
• Year: 2005
• Volume: 5
• Issue: 4
• Pages: 244-254

Contributors

author

Valerie Askanas

• USC Neuromuscular Center, Department of Neurology, University of Southern California, Keck School of Medicine, Los Angeles, California

author

W. King Engel

• USC Neuromuscular Center, Department of Neurology, University of Southern California, Keck School of Medicine, Los Angeles, California

author

Sławomir Wójcik

• Zakład Anatomii i Neurobiologii Akademii Medycznej w Gdańsku; autor przebywa w USC Neuromuscular Center na urlopie naukowo-szkoleniowym

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• Document Type: article