Titin and ryanodine receptor antibodies and neuromuscular involvement in myasthenia gravis

Authors: Aarli, Johan A; Gilhus, Nils Erik; Romi, Fredrik; Skeie, Geir Olve

Source: Future Neurology, Volume 3, Number 1, January 2008 , pp. 87-92(6)

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Abstract:

Of sera of patients with myasthenia gravis (MG), 30% contains titin and ryanodine receptor (RyR) antibodies. In early-onset MG (i.e., before 50 years of age), the presence of titin antibodies strongly suggests a thymoma. Late-onset MG comprises one MG group, characterized by a broad antimuscle immune response, including both titin and the acetylcholine receptor (AChR). Another group is preferentially associated with the HLA-A3, B7 and DRw2 antigens, representing a delayed early-onset of the disease that has a selective AChR immune response. The presence of titin and RyR antibodies is associated with more severe disease. Titin antibodies may, in some patients with rippling muscle disease, affect the contractile machinery of myofibers, thereby affecting their mechanical sensitivity. It is not known whether this occurs in MG. RyR antibodies may impair excitation--contraction coupling and contribute to muscle weakness in MG patients. Titin antibodies may serve as tumor markers in early-onset MG patients.

Keywords: myasthenia gravis; non-AChR antibodies; ryanodine receptor; thymoma; titin

Document Type: Research article

DOI: http://dx.doi.org/10.2217/14796708.3.1.87

Publication date: 2008-01-01

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Future Neurology provides a forum to address the most important challenges and advances in our understanding of neurological disease, and highlights emerging trends and prospects for effective treatments in common but very serious disorders such as stroke, epilepsy, multiple sclerosis and Parkinson's disease.
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