Mitochondrial dysfunction and mitophagy defects in LRRK2-R1441C Parkinson's disease models.

Mutations in the Leucine-Rich Repeat Kinase 2 (LRRK2) gene have been identified as one of the most common genetic causes of Parkinson's disease (PD). The LRRK2 PD-associated mutations LRRK2G2019S and LRRK2R1441C, located in the kinase domain and in the ROC-COR domain, respectively, have been demonstrated to impair mitochondrial function. Here, we sought to further our understanding of mitochondrial health and mitophagy by integrating data from LRRK2R1441C rat primary cortical and human induced pluripotent stem cell-derived dopamine (iPSC-DA) neuronal cultures as models of PD.

Cord serum brain-derived neurotrophic factor levels at birth associate with temperament outcomes at one year.

Altered serum levels of brain-derived neurotrophic factor (BDNF) are consistently linked with neurological disorders. BDNF is also increasingly implicated in the pathogenesis of neurodevelopmental disorders, particularly those found more frequently in males. At birth, male infants naturally have significantly lower serum BDNF levels (∼10-20% lower than females), which may render them more vulnerable to neurodevelopmental disorders.

Prenatal symptoms of anxiety and depression associated with sex differences in both maternal perceptions of one year old infant temperament and researcher observed infant characteristics.

Background: Sex differences in the behaviour of children exposed to prenatal maternal depression and anxiety have been reported. This study compared depression and anxiety symptoms reported by mothers at term with maternal perceptions of one year old male and female infant temperament and with researcher observed infant characteristics, identifying differences for males and females with both approaches.

Methods: Infant behaviour and temperament was assessed via maternally completed questionnaires including Infant Behavioural Questionnaire Revised - Short form and by researcher administered subcomponents of Laboratory Temperament Assessment Battery and Bayley Scales of Infant Development III.

Impact of copy number variation on human neurocognitive deficits and congenital heart defects: A systematic review.

Copy number variant (CNV) syndromes are often associated with both neurocognitive deficits (NCDs) and congenital heart defects (CHDs). Children and adults with cardiac developmental defects likely to have NCDs leading to increased risk of hospitalisation and reduced level of independence. To date, the association between these two phenotypes have not been explored in relation to CNV syndromes.

Seasonal variation in salivary cortisol but not symptoms of depression and trait anxiety in pregnant women undergoing an elective caesarean section.

Objectives: Seasonal changes in mood and behaviour are commonly reported in the general population but considerably less is known regarding seasonality and pregnancy. This study investigated the relationship between seasons and depression and anxiety symptoms, salivary cortisol concentrations, custom birthweight centiles (CBWC) and placenta weight for pregnant women living in South Wales.

Methods: This study utilised data from the longitudinal Grown in Wales (GiW) cohort.