HIF1 and DROSHA are involved in MMACHC repression in hypoxia.

The MMACHC gene encodes for an enzyme involved in intracellular vitamin B metabolism, and autosomal recessive defects in MMACHC represent the most common disorder of intracellular vitamin B metabolism. Recent studies have identified increased levels of reactive oxygen species in cells and tissues with MMACHC dysfunction, suggesting a role for oxidative stress in disease. To investigate the link between oxidative stress and MMACHC, we exposed mice as well as human and mouse cells to hypoxia, and found significant repression of MMACHC in all investigated tissues (retina, eyecup, liver, kidney) and cell lines (HeLa, ARPE-19, human and mouse fibroblasts, 661W).

Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice.

Combined methylmalonic aciduria with homocystinuria (cblC type) is a rare disease caused by mutations in the MMACHC gene. MMACHC encodes an enzyme crucial for intracellular vitamin B metabolism, leading to the accumulation of toxic metabolites e.g.

Effectiveness of a 5-Week Inpatient Dialectical Behavior Therapy for Borderline Personality Disorder.

Objective: The goal of this study was to evaluate whether symptoms are reduced and emotion regulation improves when patients with borderline personality disorder (BPD) receive a 5-week course of inpatient dialectical behavioral therapy (DBT) and if changes in emotion regulation are associated with changes in symptoms.

Methods: Forty-four patients with BPD receiving a 5-week course of DBT in a German psychiatry clinic participated. The short version of the "Borderline Symptom List" (BSL-23) was the patient-reported outcome.

Oxytocin Reduces Alcohol Cue-Reactivity in Alcohol-Dependent Rats and Humans.

Approved pharmacological treatments for alcohol use disorder are limited in their effectiveness, and new drugs that can easily be translated into the clinic are warranted. One of those candidates is oxytocin because of its interaction with several alcohol-induced effects. Alcohol-dependent rats as well as post-mortem brains of human alcoholics and controls were analyzed for the expression of the oxytocin system by qRT-PCR, in situ hybridization, receptor autoradiography ([I]OVTA binding), and immunohistochemistry.