Julien Cédric, Gorman Kristen Fay, Akoume Marie-Yvonne, Moreau Alain
Viscogliosi Laboratory in Molecular Genetics of Musculoskeletal Diseases, Sainte-Justine University Hospital Research Center, Université de Montréal, Québec, Canada.
Department of Biochemistry, Faculty of Medicine, Université de Montréal, Québec, Canada.
Per Med. 2013 Jan;10(1):97-103. doi: 10.2217/pme.12.117.
Adolescent idiopathic scoliosis (AIS) is one of the most common childhood deformities worldwide, characterized by a 3D spinal deformity with unknown cause, and represents both an immediate medical challenge and a chronic condition affecting individuals throughout their lives. The standard of care for scoliosis has not changed in any significant manner in decades. Patients today are treated in a substantially similar manner to those 20 or 30 years ago: observation, bracing and spinal surgery as last resort. Recent progress allow the identification of potential candidate genes, but the function of these still remains elusive and further efforts should be made to connect the predisposing genetic background to the physiopathology. To overcome that situation, we developed functional and biochemical assays that represent promising alternatives. They can help to understand the physiopathology of AIS and direct genetic studies, but more importantly they will contribute to an improved stratification of AIS patients, and thus lead to accurate personalized diagnoses, prognoses and treatment strategies.
青少年特发性脊柱侧凸（AIS）是全球最常见的儿童畸形之一，其特征是三维脊柱畸形，病因不明，既是当下的医学挑战，也是影响个体一生的慢性病。几十年来，脊柱侧凸的治疗标准没有任何重大改变。如今的患者接受的治疗方式与二三十年前的患者基本相似：观察、支具治疗以及作为最后手段的脊柱手术。最近的进展使人们能够识别潜在的候选基因，但这些基因的功能仍然难以捉摸，应进一步努力将易患基因背景与病理生理学联系起来。为了克服这种情况，我们开发了功能性和生化检测方法，这些方法是很有前景的替代方法。它们有助于了解AIS的病理生理学并指导基因研究，但更重要的是，它们将有助于改善AIS患者的分层，从而实现准确的个性化诊断、预后和治疗策略。
