Lack of association between acetylcholine receptor ϵ polymorphisms and early-onset myasthenia gravis

• Published in: Muscle & nerve Vol. 29; no. 3; pp. 436 - 439
• Main Authors: Bonifati, Domenico Marco, Willcox, Nick, Vincent, Angela, Beeson, David
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01-03-2004
• Subjects: acetylcholine receptor; Adult; Age of Onset; congenital myasthenic syndrome; DNA Mutational Analysis; epsilon subunit; Female; Gene Frequency; Genetic Testing; Humans; India; Introns - genetics; Male; Mutation - genetics; myasthenia gravis; Myasthenia Gravis - genetics; Myasthenia Gravis - metabolism; Neuromuscular Junction - genetics; Neuromuscular Junction - metabolism; Neuromuscular Junction - pathology; polymorphism; Polymorphism, Genetic - genetics; Polymorphism, Single-Stranded Conformational; Protein Subunits - genetics; Receptors, Cholinergic - genetics; United Kingdom
• ISSN: 0148-639X; 1097-4598
• DOI: 10.1002/mus.10548

A patient with mutations in the acetylcholine receptor (AChR) ϵ subunit, who subsequently developed autoimmune myasthenia gravis (MG), led us to search for ϵ AChR mutations and polymorphisms in 167 patients with early‐onset MG. No ϵ‐subunit mutations or increased incidence of exonic ϵ‐subunit polymorphisms were found. The allelic frequency of the intron polymorphism IVS11+ 20del20 was more prevalent in non–United Kingdom subjects, both patients and healthy individuals, than in United Kingdom subjects (15.8 vs. 6.2%, P = 0.0008) but not between MG patients and healthy individuals. These data provide no evidence that heteroallelic mutations or polymorphisms in the AChR ϵ subunit are involved in the development of autoimmune early‐onset MG but raise issues for future studies. Muscle Nerve 29: 436–439, 2004