The activity of transforming growth factor-β in young age with marfanoid habitus

Abstract

According to contemporary views, hereditary connective tissue disorders divided classified Marfan syndrome, Loeys-Dietz’s, Ehlers-Danlos syndrome, the primary mitral valve prolapse. It is known that the fibrillinopaty, which include the Marfan syndrome and Loeys-Dietz’s is characterized by activation of TGF-β signaling pathway. With high le vels of TGF-β attributed most of these clinical manifestations these diseases – aneurysm of the aorta, arahnodaktylya, duralectasy. Assessment of the activity of TGF-β in persons with marfanoid habitus has not previously been studied.
 Materials and methods. As part of this work, surveyed 70 people: 61 patients young age (median age of 20.1 ± 2.1 years), among which 36 boys and 25 girls and 9 men with verified diagnosis Marfan syndrome (median age 27.9 ± 9.3 years). All survey performed Echocardiography with a targeted search of small anomalies of heart.
 Results. Correlation analysis showed a direct and reliable connection between arahnodaktylya and concentration of TGF-β1 in serum (r = 0.4, p = 0.05). For young people with signs of marfanoid habitus are characterized by reliably a higher concentration in the serum of both isoforms of TGF-β. Excess of threshold levels of TGF-β1 revealed at 20% of the core group and not found at all in the control (p < 0.05). Among persons with exceedances of threshold values for at least one faction of the TGF-β patients with signs of marfanoid habitus met almost three times more often than in the group with normal values of TGF-β (p = 0.01, χ2 = 5.58). In the group of persons with marfanoid habitus and increases TGF-β are detected more frequently such as atrial septal aneurysm, false chord left ventricle papillary muscles, incremental, deflection of shutters of the mitral valve in 1-2 mm, asymmetry tricuspid aortic valve.

Transforming growth factor beta 1. Biological role and clinical significance

“…An increase in the concentration of this cytokine can be caused either by a mutation in the TGF beta receptors, or by a violation of the activation control of the TGF beta molecule [43][44][45]. Structural abnormalities of the connective tissue framework of the heart were associated with activation of the TGF beta signaling pathway in patients with connective tissue dysplasia (mitral valve prolapse, aortic half-moon asymmetry) [46]. It has been shown that antibodies to TGF beta inhibit the development of Marfan syndrome in transgenic mice with a genetic model of this disease [47; 48].…”

Расслаивающая Аневризма Аорты Как Одна Из Ведущих Причин Летальности При синдроме Марфана На Примере Клинического Случая

“…Прогноз обычно хуже у женщин [16], что связано с атипичной или бессимптомной манифестацией [3,9,19]. Именно это и приводит к поздней диагностике АО, часто на стадии, уже осложнившейся расслоением аорты, или на стадии очень обширного поражения аорты, что обусловливает невозможность успешного хирургического вмешательства [18,20].…”

Role of Transforming Growth Factor β in Morphogenesis of Dilation and Dissection of the Thoracic Aorta

“…Keywords: transforming growth factor-β, dilatation and dissection of the thoracic aorta, remodeling of the vascular wall, aortopathy, morphogenesis _________________________________________________________________________________________________  ВВЕДЕНИЕ В основе развития патологии аорты, по данным научной литературы, лежат мультисистемные, плейотропные изменения, приводящие к широкой вариабельности морфологической картины. Выявлена значимая роль трансформирующего фактора роста бета (TGF-β) при изучении патогенеза патологии аорты, роль которого особенно значима при наследственных нарушениях соединительной ткани [1]. TGF-β является представителем семейства димерных полипептидов, которые активно синтезируются многими типами клеток и широко распространены в тканях [2].…”