PDGF-BB serum levels are decreased in adult onset Pompe patients

被引:7
作者
Fernandez-Simon, Esther [1 ]
Carrasco-Rozas, Ana [1 ]
Gallardo, Eduard [1 ,2 ]
Figueroa-Bonaparte, Sebastian [1 ]
Belmonte, Izaskun [3 ]
Pedrosa, Irene [3 ]
Montiel, Elena [3 ]
Suarez-Calvet, Xavier [1 ,2 ]
Alonso-Perez, Jorge [1 ]
Segovia, Sonia [1 ,2 ]
Nunez-Peralta, Claudia [4 ]
Llauger, Jaume [4 ]
Mayos, Mercedes [5 ]
Illa, Isabel [1 ,2 ]
Diaz-Manera, Jordi [1 ]
Angel Barba-Romero, Miguel [6 ]
Barcena, Joseba [7 ]
Rosario Carzorla, Maria [8 ]
Creus, Carlota [9 ]
Coll-Canti, Jaume [10 ]
de Luna, Noemi [1 ,2 ]
Diaz, Manuel [11 ]
Dominguez, Cristina [12 ,13 ]
Fernandez-Torron, Roberto [14 ]
Jose Garcia-Antelo, Maria [15 ]
Maria Grau, Josep [16 ]
Teresa Gomez-Caravaca, Maria [17 ]
Carlos Leon-Hernandez, Juan [18 ]
Lopez de Munain, Adolfo [14 ]
Antonio Martinez-Garcia, Francisco [19 ]
Morgado, Yolanda [20 ]
Moreno, Antonio [21 ]
Moris, German [22 ]
Angel Munoz-Blanco, Miguel [23 ]
Nascimento, Andres [24 ]
Paradas, Carmen [25 ]
Luis Parajua-Pozo, Jose [26 ]
Querol, Luis [1 ,2 ]
Robledo-Strauss, Arturo [27 ]
Rojas-Garcia, Ricard [1 ,2 ]
Rojas-Marcos, Inigo [28 ]
Antonio Salazar, Jose [29 ]
Uson, Mercedes [30 ]
机构
[1] Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Neurol Dept, Neuromuscular Disorders Unit, Barcelona, Spain
[2] Ctr Invest Red Enfermedades Raras CIBERER, Barcelona, Spain
[3] Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Rehabil & Physiotherapy Dept, Barcelona, Spain
[4] Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Radiol Dept, Barcelona, Spain
[5] Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Resp Dept, Barcelona, Spain
[6] Hosp Gen Albacete, Albacete, Spain
[7] Hosp Univ Cruces, Baracaldo, Spain
[8] Hosp Puerta de Hierro, Majadahonda, Spain
[9] Hosp Virgen de las Nieves, Granada, Spain
[10] Hosp Germans Tries & Pujol, Badalona, Spain
[11] Hosp Cabuenes, Gijon, Spain
[12] Hosp 12 Octubre, Madrid, Spain
[13] Inst Invest I 12, Madrid, Spain
[14] Hosp Univ Donostia, Donostia San Sebastian, Spain
[15] Hosp Univ A Coruna, La Coruna, Spain
[16] Hosp Clin Barcelona, Barcelona, Spain
[17] Hosp Cordoba, Cordoba, Spain
[18] Hosp Univ Nuestra Senora de la Candelaria, Tenerife, Spain
[19] Hosp Clin Univ Virgen de la Arrixaca, Murcia, Spain
[20] Hosp Univ Virgen de Valme, Seville, Spain
[21] Hosp Univ Morales Meseguer, Murcia, Spain
[22] Hosp Univ Asturias, Oviedo, Spain
[23] Hosp Gregorio Maranon, Madrid, Spain
[24] Hosp St Joan de Deu, Barcelona, Spain
[25] Hosp Virgen del Rocio, Seville, Spain
[26] Hosp Can Mises, Ibiza, Spain
[27] Hosp Juan Ramon Jimenez, Huelva, Spain
[28] Hosp Virgen de Macarena, Seville, Spain
[29] Hosp Reg Univ Malaga, Malaga, Spain
[30] Hosp Son Llatzer, Palma De Mallorca, Mallorca, Spain
关键词
ENZYME REPLACEMENT THERAPY; SKELETAL-MUSCLE; GLUCOSE TETRASACCHARIDE; DISEASE SEVERITY; BIOMARKER; DIFFERENTIATION; REGENERATION; INVOLVEMENT; CELLS; MRI;
D O I
10.1038/s41598-018-38025-0
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
Adult onset Pompe disease is a genetic disorder characterized by slowly progressive skeletal and respiratory muscle weakness. Symptomatic patients are treated with enzymatic replacement therapy with human recombinant alfa glucosidase. Motor functional tests and spirometry are commonly used to follow patients up. However, a serological biomarker that correlates with the progression of the disease could improve follow-up. We studied serum concentrations of TGF beta, PDGF-BB, PDGF-AA and CTGF growth factors in 37 adult onset Pompe patients and 45 controls. Moreover, all patients performed several muscle function tests, conventional spirometry, and quantitative muscle MRI using 3-point Dixon. We observed a statistically significant change in the serum concentration of each growth factor in patients compared to controls. However, only PDGF-BB levels were able to differentiate between asymptomatic and symptomatic patients, suggesting its potential role in the follow-up of asymptomatic patients. Moreover, our results point to a dysregulation of muscle regeneration as an additional pathomechanism of Pompe disease.
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页数:10
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