TY - JOUR
T1 - A close-up view of the Hunter syndrome
AU - Ramírez, Carolina Cardona
AU - Alméciga-Díaz, Carlos Javier
AU - Martín-Rufián, Mercedes
AU - Cárdenas-García, Casimiro
AU - Espejo-Mojica, Angela Johana
AU - Lobo, Carolina
AU - Benincore, Eliana Patricia
N1 - Publisher Copyright:
© 2024
PY - 2024/2/12
Y1 - 2024/2/12
N2 - The Lysosomal Storage disease known as Mucopolysaccharidosis type II, is caused by mutations affecting the iduronate-2-sulfatase required for heparan and dermatan sulfate catabolism. The central nervous system (CNS) is mostly and severely affected by the accumulation of both substrates. The complexity of the CNS damage observed in MPS II patients has been limitedly explored. The use of mass spectrometry (MS)-based proteomics tools to identify protein profiles may yield valuable information about the pathological mechanisms of Hunter syndrome. In this further study, we provide a new comparative proteomic analysis of MPS II models by using a pipeline consisting of the identification of native protein complexes positioned selectively by using a specific antibody, coupled with mass spectrometry analysis, allowing us to identify changes involving in a significant number of new biological functions, including a specific brain antioxidant response, a down-regulated autophagic, the suppression of sulfur catabolic process, a prominent liver immune response and the stimulation of phagocytosis among others.
AB - The Lysosomal Storage disease known as Mucopolysaccharidosis type II, is caused by mutations affecting the iduronate-2-sulfatase required for heparan and dermatan sulfate catabolism. The central nervous system (CNS) is mostly and severely affected by the accumulation of both substrates. The complexity of the CNS damage observed in MPS II patients has been limitedly explored. The use of mass spectrometry (MS)-based proteomics tools to identify protein profiles may yield valuable information about the pathological mechanisms of Hunter syndrome. In this further study, we provide a new comparative proteomic analysis of MPS II models by using a pipeline consisting of the identification of native protein complexes positioned selectively by using a specific antibody, coupled with mass spectrometry analysis, allowing us to identify changes involving in a significant number of new biological functions, including a specific brain antioxidant response, a down-regulated autophagic, the suppression of sulfur catabolic process, a prominent liver immune response and the stimulation of phagocytosis among others.
KW - Hunter syndrome
KW - IDS
KW - Mass spectrometry
KW - Mucopolysaccharidosis
KW - Proteomic analysis
UR - http://www.scopus.com/inward/record.url?scp=85183002024&partnerID=8YFLogxK
U2 - 10.1016/j.bbrc.2024.149490
DO - 10.1016/j.bbrc.2024.149490
M3 - Article
C2 - 38241811
AN - SCOPUS:85183002024
SN - 0006-291X
VL - 696
JO - Biochemical and Biophysical Research Communications
JF - Biochemical and Biophysical Research Communications
M1 - 149490
ER -