The impact of self-stigmatization on medication attitude in schizophrenia patients.

Negative attitudes towards medication in schizophrenia patients are one major factor contributing to non-adherence behavior. Besides, self-stigmatization represents another frequent and important obstacle in patients suffering from psychotic disorders. Here, we investigated possible associations between medication adherence attitude and the extent of self-stigmatization, while also exploring factors related to self-stigmatization. Sociodemographic characteristics, clinical variables, medication attitude and self-stigmatization were assessed among 81 subjects with schizophrenia or schizoaffective disorder. The cross-sectional data was then analyzed by multivariate analyses. A more positive attitude towards medication was predicted by better insight into illness, lower degree of self-stigmatization and good subjective knowledge about medication (adjusted R2 = 0.23). Furthermore, a higher level of self-stigmatization was associated with lower subjective wellbeing, more severe depressive symptoms and male gender (adjusted R2 = 0.58). Other clinical variables had no additional predictive value for medication adherence attitude or the extent of self-stigmatization. Our findings support the notion that self-stigmatization is an influential factor on medication attitude that should therefore be appreciated in clinical practice. Besides this, special emphasis should be taken on depressive symptoms and reduced wellbeing, especially in male patients, to lower the extent of self-stigmatization.

A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS.

Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder normally caused by a spontaneous heterozygous mutation in the LMNA gene that codes for the nuclear lamina protein lamin A. Several enzymes are involved in the processing of its precursor, prelamin A, to the mature lamin A. A functional knockout of one of the enzymes involved in prelamin A processing, the zinc metalloprotease ZMPSTE24, causes an even more severe disorder with early neonatal death described as restrictive dermatopathy (RD). This work describes a HGPS patient with a combined defect of a homozygous loss-of-function mutation in the ZMPSTE24 gene and a heterozygous mutation in the LMNA gene that results in a C-terminal elongation of the final lamin A. Whereas the loss of function mutation of ZMPSTE24 normally results in lethal RD, the truncation of LMNA seems to be a salvage alteration alleviating the clinical picture to the HGPS phenotype. The mutations of our patient indicate that farnesylated prelamin A is the deleterious agent leading to the HGPS phenotype, which gives further insights into the pathophysiology of the disorder.