The Potential Role of Dysregulated miRNAs in Adolescent Idiopathic Scoliosis and 22q11.2 Deletion Syndrome

Abstract

Background: Adolescent idiopathic scoliosis (AIS), affecting 2–4% of adolescents, is a multifactorial spinal disease. Interactions between genetic and environmental factors can influence disease onset through epigenetic mechanisms, including DNA methylation, histone modifications and miRNA expression. Recent evidence reported that, among all clinical features in individuals with 22q11.2 deletion syndrome (DS), scoliosis can occur with a higher incidence than in the general population. Methods: A PubMed and Ovid Medline search was performed for idiopathic scoliosis in the setting of 22q11.2DS and miRNA according to PRISMA guidelines. Results: Four papers, accounting for 2841 individuals, reported clinical data about scoliosis in individuals with 22q11.2DS, showing that approximately 35.1% of the individuals with 22q11.2DS developed scoliosis. Conclusions: 22q11.2DS could be used as a model for the study of AIS. The DGCR8 gene seems to be essential for microRNA biogenesis, which is why we propose that a possible common pathological mechanism between scoliosis and 22q11.2DS could be the dysregulation of microRNA expression. In the current study, we identified two miRNAs that were altered in both 22q11.2DS and AIS, miR-93 and miR-1306, thus, corroborating the hypothesis that the two diseases share common molecular alterations.

Incobotulinumtoxin A and Yoga-like Isometric Exercise in Adolescent Idiopathic Lumbar Scoliosis—A Randomized Pilot Study

“…Power calculations based on previous papers [23][24][25] yielded 10 subjects in the control group and ten subjects in the study group and the placebo groups, where alpha = 0.05 and (1 − beta) = 80%, (10 subjects per group). Randomization was conducted using random.org as patients qualified for the study presented in the office.…”

“…Although genetic, anatomical and neuroanatomical correlates of AIS have been discovered [20][21][22][23], promising physiotherapeutic work to effectively stabilize and reverse scoliosis awaits high-quality studies that confirm it [24]. A reliable, innocuous and readily available conservative means of reversing scoliosis curves would be desirable.…”

KIF1A-Associated Neurological Disorder: An Overview of a Rare Mutational Disease

“…Due to gastrointestinal dysfunction, people with severe diseases could need parenteral nourishment [ 2 ]. Several studies state that the mutation in the KIF1A gene directly affects the motility of hetero-dimeric motors [ 3 , 34 , 35 ].…”

Research progress on the regulation of bone marrow stem cells by noncoding RNAs in adolescent idiopathic scoliosis

“…Finally, evidence suggests that 22q11.2 deletion syndrome is closely associated with AIS (Homans et al, 2019). Specifically, the epigenetic mechanism of 22q11.2 deletion syndrome involves changes in miR‐93 and miR‐1306 levels, and the levels of these two miRNAs have also been observed to be altered in AIS (Lian et al, 2012; Montemurro et al, 2022).…”