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Drug Store News

Genetic aspects of Paget’s disease of bone: Conclusions

PDB is a quite common condition with a strong heterogeneous genetic component. Mutations affecting the UBA domain of SQSTM1/p62 gene have been demonstrated to be an impor­tant cause of the disease. However, in a functional study none of the analyzed … Continue reading →

Genetic aspects of Paget’s disease of bone: Other PDB susceptibility’s gene(s)

Another rare syndrome related to PDB, named juvenile Paget’s disease, has been described to be caused by inactivating muta­tions of the TNFRSF11B gene on 8q24. This gene en­codes osteoprotegerin (OPG). It has been well established that OPG plays a critical … Continue reading →

Genetic aspects of Paget’s disease of bone: Importance of the SQSTM1/p62 gene mutational analysis in clinical practice

All the reports appeared in international literature clearly indi­cate an autosomal pattern of inheritance of familial PDB with most of the affected subjects having a SQSTM1/p62 mutation and several asymptomatic gene mutant carriers in last generations. Thus, mutational analysis in … Continue reading →