Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:Q00604 (X-linked)
 16,883 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The group of patients consisted of 4 pairs of male siblings with the family history suggesting X-linked immunodeficiency. The concentration of serum immunoglobulins (Ig) and the titer of anti-E. coli and anti-Candida albicans antibodies was extremely low in comparison to the control group. Only 2 siblings showed normal number of lymphocytes with surface Ig. Four out of 8 children had the increased number of Fc-IgG bearing T cells. Blast transformation of lymphocytes revealed the decreased response to PHA and Con A in 2 children. Cellular immunoglobulin (cIg) synthesis of in vitro stimulated peripheral blood lymphocytes (PBL) was decreased in all 8 children. Prednisolone, when added to the PBL cultures, increased cIg synthesis in 2 children. Thymosin (TFX) caused an enhancement of cIg production by lymphocytes of 4 children. Cowan I--elicited stimulation of PBL was low in all but 2 children. Our data further support the view on the heterogeneity of etiopathogenesis of hypogammaglobulinemia.
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PMID:Immunoglobulin synthesis by lymphocytes of eight immuno-deficient children. 390 93

Duchenne muscular dystrophy (DMD) is a recessive X-linked form of muscular dystrophy characterized by progressive muscle degeneration. This disease is caused by the mutation or deletion of the dystrophin gene. Currently, there are no effective treatments and glucocorticoid administration is a standard care for DMD. However, the mechanism underlying prednisolone effects, which leads to increased walking, as well as decreased muscle wastage, is poorly understood. Our purpose in this study is to investigate the mechanisms of the efficacy of prednisolone for this disease. We converted fibroblasts of normal human cell line and a DMD patient sample to myotubes by MyoD transduction using a retroviral vector. In myotubes from the MyoD-transduced fibroblasts of the DMD patient, the myotube area was decreased and its apoptosis was increased. Furthermore, we confirmed that prednisolone could rescue these pathologies. Prednisolone increased the expression of not utrophin but laminin by down-regulation of MMP-2 mRNA. These results suggest that the up-regulation of laminin may be one of the mechanisms of the efficacy of prednisolone for DMD.
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PMID:Efficacy of Prednisolone in Generated Myotubes Derived From Fibroblasts of Duchenne Muscular Dystrophy Patients. 3055 67