RESUMO
Paraneoplastic cerebellar degeneration (PCD) is often associated with Yo antibodies that are directed against human cerebellar degeneration-related protein 2 (CDR2). Such antibodies may also be found in ovarian cancer patients without PCD. We studied if there was an association between Yo antibody production and differences in CDR2 cDNA sequence, mRNA or CDR2 expression in ovarian cancers. We found similar CDR2 cDNA sequence, mRNA and protein levels in primary ovarian cancers, with or without associated Yo antibodies. CDR2 was also present in other cancers, as well as in normal ovary tissue. The results suggest that Yo antibodies are not only related to the expression of CDR2 alone, but also to immune dysregulation.
Assuntos
Anticorpos/análise , Anticorpos/imunologia , Proteínas do Tecido Nervoso/análise , Proteínas do Tecido Nervoso/imunologia , Neoplasias Ovarianas/imunologia , Adulto , Idoso , Complexo Antígeno-Anticorpo/imunologia , Feminino , Humanos , Pessoa de Meia-Idade , Proteínas do Tecido Nervoso/genética , Neoplasias Ovarianas/genética , Degeneração Paraneoplásica Cerebelar/imunologia , RNA Mensageiro/genéticaRESUMO
Charcot-Marie-Tooth (CMT) disease is the most commonly inherited disorder of the peripheral nervous system; in Norway, the estimated prevalence is approximately one in 2,500. CMT has been classified into a demyelinating form (CMT1) and an axonal form (CMT2). Around 70-80% of CMT1 cases are caused by a dominantly inherited 1.5 Mb duplication at 17p11.2-12 (CMT1A), encompassing the peripheral myelin protein 22 (PMP22) gene. In contrast, hereditary neuropathy with liability to pressure palsies (HNPP) is caused by the reciprocal deletion of the same 1.5 Mb region. We recently developed a method by real-time quantitative polymerase chain reaction (PCR) for detecting CMT1A duplication and HNPP deletion. Real-time quantitative PCR is very sensitive for identifying PMP22 gene copy number in CMT1A duplication and HNPP deletion. We discuss molecular genetic testing of CMT1A duplication and HNPP deletion. Real-time quantitative PCR should find broad application in clinical and research settings, not only in CMT1A duplication and HNPP deletion, but also in other diseases involving gene copy number or gene expression.