Fayssoil Abdallah, Renault Gilles, Guerchet Nicolas, Marchiol-Fournigault Carmen, Fougerousse Françoise, Richard Isabelle
Raymond Poincare Hospital, University of Versailles Saint-Quentin-en-Yvelines , Garches.
Institut Cochin, Université Paris Descartes , Paris.
Neurol Int. 2013 Nov 27;5(4):e22. doi: 10.4081/ni.2013.e22. eCollection 2013.
Limb-girdle muscular dystrophy 2D (LGMD2D) is an inherited myogenic disorder belonging to the group of muscular dystrophies. Sgca-null mouse is a knock-out model of LGMD2D. Little is known about cardiac phenotype characterization in this model at different ages. We conducted a prospective study to characterize cardiac sgca-null mice phenotype using high resolution Doppler echocardiography at different ages. Conventional echocardiography was performed on anesthetised mice using a Vevo 770 (Visualsonics) with 30 MHz cardiac probe. Wild Type (WT) and sgca-null mice were scanned at 13, 15 and 17 months. From M-mode, we measured interventricular septal (IVS) wall thickness, posterior wall (PW) thickness, and end-left ventricular diameter in systolic and diastolic. From the above parameters, we calculated left ventricular (LV) shortening fraction (SF), LV ejection fraction (EF) and LV mass. At age 13 months, PW diastolic thickness was increased in sgca-null mice (0.89±0.14 mm vs 0.73±0.2 mm; P=0.020) and LV mass was higher in sgca-null mice (LV mass 205.2 mg vs 143 mg; P=0.001). We found also dilation of the LV (LVEDD: 4.84 mm vs 4.29 mm; P=0.019) in sgca-null mice. At age 15 months, dilation of the LV (LVEDD: 4.86 mm vs 4 mm; P=0.05) with an increase of the LV mass (165.7 mg vs 127.12; P=0.03) are found in sgca-null mice. At age 17 months, we found a decrease of the PW thickening (17% vs 30%; P=0.036). This work provides echocardiographic insights for the assessment of pharmaceutical therapies in sgca-null mice.
肢带型肌营养不良2D型（LGMD2D）是一种遗传性肌源性疾病，属于肌营养不良症。Sgca基因敲除小鼠是LGMD2D的基因敲除模型。关于该模型在不同年龄阶段的心脏表型特征，人们了解甚少。我们进行了一项前瞻性研究，通过高分辨率多普勒超声心动图来描述不同年龄阶段心脏Sgca基因敲除小鼠的表型。使用配备30MHz心脏探头的Vevo 770（Visualsonics）对麻醉后的小鼠进行常规超声心动图检查。在13、15和17个月时对野生型（WT）和Sgca基因敲除小鼠进行扫描。从M型超声心动图中，我们测量了室间隔（IVS）壁厚度、后壁（PW）厚度以及收缩期和舒张期左心室内径。根据上述参数，我们计算了左心室（LV）缩短分数（SF）、左心室射血分数（EF）和左心室质量。在13个月龄时，Sgca基因敲除小鼠的PW舒张期厚度增加（0.89±0.14mm对0.73±0.2mm；P = 0.020），且Sgca基因敲除小鼠的左心室质量更高（左心室质量205.2mg对143mg；P = 0.001）。我们还发现Sgca基因敲除小鼠的左心室扩张（左心室舒张末期内径：4.84mm对4.29mm；P = 0.019）。在15个月龄时，发现Sgca基因敲除小鼠存在左心室扩张（左心室舒张末期内径：4.86mm对4mm；P = 0.05）且左心室质量增加（165.7mg对127.12mg；P = 0.03）。在17个月龄时，我们发现PW增厚减少（17%对30%；P = 0.036）。这项工作为评估Sgca基因敲除小鼠的药物治疗提供了超声心动图方面的见解。
