Abstract
We have investigated the expression, using immunohistochemistry, of β- and γ-sarcoglycans in the muscles of 20 patients in whom previous screening had revealed a deficiency of α-sarcoglycan. α-, β- and γ-sarcoglycans were absent in 7 patients and variably reduced in 8 patients, in 2 of whom β-sarcoglycan was more reduced than the α- and γ-proteins. In 5 other patients with variably reduced α- and β-sarcoglycans, γ-sarcoglycan was completely absent. In all patients the distribution of hyposthenia at disease onset was similar, and predominantly involved pelvic girdle muscles; however, the age at onset and rate of disease progression were highly variable. In severely compromised patients, the onset of disease was before 10 years of age and γ-sarcoglycan or all three sarcoglycans were absent from muscles. Immunohistochemical analysis of sarcoglycans should be part of routine screening for muscle dystrophies to identify patients with sarcoglycanopathy. Gene analysis is necessary to identify the primary defect; however, sarcoglycan immunohistochemistry may be useful for indicating which gene to investigate. Further biochemical characterization of the interactions between these proteins is required to fully elucidate their roles in causing severe, moderate or mild muscular dystrophy.
| Original language | English |
|---|---|
| Pages (from-to) | 28-35 |
| Number of pages | 8 |
| Journal | Acta Neuropathologica |
| Volume | 94 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Jul 1997 |
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Keywords
- Dystrophin-associated proteins
- Dystrophin-glycoprotein complex
- Limb-girdle muscular dystrophy
- Sarcoglycans
- Severe childhood autosomal recessive muscular dystrophy
ASJC Scopus subject areas
- Clinical Neurology
- Pathology and Forensic Medicine
- Neuroscience(all)
Cite this
Concomitant deficiency of β- and γ-sarcoglycans in 20 α-sarcoglycan (adhalin)-deficient patients : Immunohistochemical analysis and clinical aspects. / Barresi, Rita; Confalonieri, Valeria; Lanfossi, Massimo; Di Blasi, Claudia; Torchiana, Elena; Mantegazza, Renato; Jarre, Laura; Nardocci, Nardo; Boffi, Patrizia; Tezzon, Frediano; Pini, Antonella; Cornelio, Ferdinando; Mora, Marina; Morandi, Lucia.
In: Acta Neuropathologica, Vol. 94, No. 1, 07.1997, p. 28-35.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Concomitant deficiency of β- and γ-sarcoglycans in 20 α-sarcoglycan (adhalin)-deficient patients
T2 - Immunohistochemical analysis and clinical aspects
AU - Barresi, Rita
AU - Confalonieri, Valeria
AU - Lanfossi, Massimo
AU - Di Blasi, Claudia
AU - Torchiana, Elena
AU - Mantegazza, Renato
AU - Jarre, Laura
AU - Nardocci, Nardo
AU - Boffi, Patrizia
AU - Tezzon, Frediano
AU - Pini, Antonella
AU - Cornelio, Ferdinando
AU - Mora, Marina
AU - Morandi, Lucia
PY - 1997/7
Y1 - 1997/7
N2 - We have investigated the expression, using immunohistochemistry, of β- and γ-sarcoglycans in the muscles of 20 patients in whom previous screening had revealed a deficiency of α-sarcoglycan. α-, β- and γ-sarcoglycans were absent in 7 patients and variably reduced in 8 patients, in 2 of whom β-sarcoglycan was more reduced than the α- and γ-proteins. In 5 other patients with variably reduced α- and β-sarcoglycans, γ-sarcoglycan was completely absent. In all patients the distribution of hyposthenia at disease onset was similar, and predominantly involved pelvic girdle muscles; however, the age at onset and rate of disease progression were highly variable. In severely compromised patients, the onset of disease was before 10 years of age and γ-sarcoglycan or all three sarcoglycans were absent from muscles. Immunohistochemical analysis of sarcoglycans should be part of routine screening for muscle dystrophies to identify patients with sarcoglycanopathy. Gene analysis is necessary to identify the primary defect; however, sarcoglycan immunohistochemistry may be useful for indicating which gene to investigate. Further biochemical characterization of the interactions between these proteins is required to fully elucidate their roles in causing severe, moderate or mild muscular dystrophy.
AB - We have investigated the expression, using immunohistochemistry, of β- and γ-sarcoglycans in the muscles of 20 patients in whom previous screening had revealed a deficiency of α-sarcoglycan. α-, β- and γ-sarcoglycans were absent in 7 patients and variably reduced in 8 patients, in 2 of whom β-sarcoglycan was more reduced than the α- and γ-proteins. In 5 other patients with variably reduced α- and β-sarcoglycans, γ-sarcoglycan was completely absent. In all patients the distribution of hyposthenia at disease onset was similar, and predominantly involved pelvic girdle muscles; however, the age at onset and rate of disease progression were highly variable. In severely compromised patients, the onset of disease was before 10 years of age and γ-sarcoglycan or all three sarcoglycans were absent from muscles. Immunohistochemical analysis of sarcoglycans should be part of routine screening for muscle dystrophies to identify patients with sarcoglycanopathy. Gene analysis is necessary to identify the primary defect; however, sarcoglycan immunohistochemistry may be useful for indicating which gene to investigate. Further biochemical characterization of the interactions between these proteins is required to fully elucidate their roles in causing severe, moderate or mild muscular dystrophy.
KW - Dystrophin-associated proteins
KW - Dystrophin-glycoprotein complex
KW - Limb-girdle muscular dystrophy
KW - Sarcoglycans
KW - Severe childhood autosomal recessive muscular dystrophy
UR - http://www.scopus.com/inward/record.url?scp=0030792467&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0030792467&partnerID=8YFLogxK
U2 - 10.1007/s004010050668
DO - 10.1007/s004010050668
M3 - Article
C2 - 9224527
AN - SCOPUS:0030792467
VL - 94
SP - 28
EP - 35
JO - Acta Neuropathologica
JF - Acta Neuropathologica
SN - 0001-6322
IS - 1
ER -