RETRACTED ARTICLE: Juvenile-onset myasthenia gravis: autoantibody status, clinical characteristics and genetic polymorphisms

Abstract

Myasthenia gravis (MG) is an autoimmune disorder mediated by antibodies against proteins at the neuromuscular junction. Juvenile-onset MG (JMG) has been reported to have special characteristics. It is still unclear whether there are any pathogenic and genetic differences between juvenile and adult MG. In this study, we evaluated the clinical characteristics, autoantibody status (antibodies against AChR, MuSK, LRP4, titin and RyR) and genetic susceptibility (CHRNA1, CTLA4 and AIRE) in 114 Chinese JMG patients, and compared with 207 young adult MG patients (onset age 18-40 years). JMG patients were classified into two subgroups: the very early onset group (<8 years) and puberty onset group (8-18 years). The very early onset MG patients had a higher proportion of ocular MG and thymus hyperplasia, compared with puberty onset MG and young adult MG (P < 0.05). AChR antibodies were found in majority of JMG patients and were associated with more severe disease (P < 0.05), while other antibodies were rare in JMG. Moreover, the very early onset MG had a more prominent genetic predisposition than puberty and adult MG, affecting the susceptible genes CHRNA1 and CTLA4. JMG has the same pathogenic background as adult MG, but has typical clinical features and a prominent genetic predisposition in very early onset patients (<8 years). Specific therapeutic considerations are needed.

Immune checkpoint inhibitors in the onset of myasthenia gravis with hyperCKemia

“…Moreover, Hong et al. reported a genetic association of CTLA4 in juvenile‐onset MG in China . Some of these autoimmune diseases share clinical features with IRAEs caused by ICI treatment .…”

Maternal myasthenia gravis represents a risk for the child through autoantibody transfer, immunosuppressive therapy and genetic influence

“…In this age group, MG is 2.5–3.0 times more common in females than in males. Juvenile MG with onset before age 18 years has an annual incidence of 2.8 per million amongst females in western countries but is five times higher in the Far East . In a Norwegian cohort, one‐third of all AChR antibody‐positive MG patients had debut before age 50 years , but in countries with a younger population this is higher.…”

Immunopathogenesis of Myasthenia Gravis (Review)

“…Во время исследований, проведенных в по-следнее десятилетие, выделены такие гены, как ген протеинтирозинфосфатазы нерецепторный тип 22 (PTPN22), TNFAIP3 -ген взаимодействующих бел-ков 1 (TNIP1), ген цитотоксического Т-лимфоцит-ассоциированного белка 4 (CTLA4), а также ряд дру-гих генов [19,24,64]. У больных детского возраста также выявлена взаи-мосвязь с указанными генами [42]. Этот факт может стать аргументом в пользу теории единых генетиче-ских механизмов формирования нарушений нерв-но-мышечной передачи.…”