Fourier transform infrared spectroscopy as a novel approach for analyzing the biochemical effects of anionic surfactants on a surfactant-degrading acrobacter butzleri strain

Cataloged from PDF version of article.Anionic surfactant-biodegrading capability of an Arcobacter butzleri strain was analyzed under aerobic conditions. The A. butzleri isolate displayed efficient surfactant-biodegrading capacity for sodium dodecyl sulfate (SDS) at concentrations of up to 100 mg/L in 6 days, corresponding to 99.0% removal efficiency. Fourier transform infrared spectroscopy was applied to observe the effects of varying concentrations of SDS on the biochemistry of bacterial cells. Results suggest that protein secondary structures were altered in bacterial cells at sufficiently high SDS concentrations, concurrent with SDS biodegradation

SLC25A22 is a novel gene for migrating partial seizures in infancy

Objective To identify a genetic cause for migrating partial seizures in infancy (MPSI). Methods We characterized a consanguineous pedigree with MPSI and obtained DNA from affected and unaffected family members. We analyzed single nucleotide polymorphism 500K data to identify regions with evidence of linkage. We performed whole exome sequencing and analyzed homozygous variants in regions of linkage to identify a candidate gene and performed functional studies of the candidate gene SLC25A22. Results In a consanguineous pedigree with 2 individuals with MPSI, we identified 2 regions of linkage, chromosome 4p16.1-p16.3 and chromosome 11p15.4-pter. Using whole exome sequencing, we identified 8 novel homozygous variants in genes in these regions. Only 1 variant, SLC25A22 c.G328C, results in a change of a highly conserved amino acid (p.G110R) and was not present in control samples. SLC25A22 encodes a glutamate transporter with strong expression in the developing brain. We show that the specific G110R mutation, located in a transmembrane domain of the protein, disrupts mitochondrial glutamate transport. Interpretation We have shown that MPSI can be inherited and have identified a novel homozygous mutation in SLC25A22 in the affected individuals. Our data strongly suggest that SLC25A22 is responsible for MPSI, a severe condition with few known etiologies. We have demonstrated that a combination of linkage analysis and whole exome sequencing can be used for disease gene discovery. Finally, as SLC25A22 had been implicated in the distinct syndrome of neonatal epilepsy with suppression bursts on electroencephalogram, we have expanded the phenotypic spectrum associated with SLC25A22. Ann Neurol 2013;74:873-882 © 2013 American Neurological Association

CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development

Charged multivesicular body protein 1A (CHMP1A; also known as chromatin-modifying protein 1A) is a member of the ESCRT-III (endosomal sorting complex required for transport-III) complex but is also suggested to localize to the nuclear matrix and regulate chromatin structure. Here, we show that loss-of-function mutations in human CHMP1A cause reduced cerebellar size (pontocerebellar hypoplasia) and reduced cerebral cortical size (microcephaly). CHMP1A-mutant cells show impaired proliferation, with increased expression of INK4A, a negative regulator of stem cell proliferation. Chromatin immunoprecipitation suggests loss of the normal INK4A repression by BMI in these cells. Morpholino-based knockdown of zebrafish chmp1a resulted in brain defects resembling those seen after bmi1a and bmi1b knockdown, which were partially rescued by INK4A ortholog knockdown, further supporting links between CHMP1A and BMI1-mediated regulation of INK4A. Our results suggest that CHMP1A serves as a critical link between cytoplasmic signals and BMI1-mediated chromatin modifications that regulate proliferation of central nervous system progenitor cells

Psychiatric disorders among older prisoners: a systematic review and comparison study against older people in the community

Objectives: Despite emerging evidence that older prisoners experience poor mental health, literature in this area is still limited. In the present systematic review and meta-analysis, we report on the prevalence of psychiatric disorders among older prisoners and compare our findings against community studies on older people. Methods: We searched on Assia, PsycInfo, MedLine, Embase, Web of Science, Google and Gov.uk. We carried out bias assessments, rated studies for quality and ran a heterogeneity test. We meta-analysed prevalence rates of psychiatric disorders through an aggregate weighted mean and calculated Relative Risk and statistical significance against community studies. Sensitivity analyses were further performed. Results: We reviewed nine studies and obtained the following prevalence: “Any psychiatric disorder” 38.4%, depression 28.3%, schizophrenia/psychoses 5.5%, bipolar disorder 4.5%, dementia 3.3%, cognitive impairment 11.8%, personality disorder 22.9%, alcohol abuse 15.9%, anxiety disorders 14.2%, PTSD 6.2%. Older prisoners were found to have higher RR for every single psychiatric disorder against older people in the community, with the sole exception of alcohol abuse (RR=1) and dementia (RR=.75). The prevalence rates were statistically significantly higher (p<.05) among the prisoners for “Any psychiatric disorder”, depression and personality disorder. Overall, the sensitivity analyses confirmed our original results. Conclusion: Our findings point at a high prevalence of every single psychiatric disorder among older prisoners, who also experience rates of dementia and alcohol abuse comparable to those reported in the community. Our results have relevant implications for policy and practice in this area. Further research is crucial to confirm findings from this study