Heightened Olfactory Sensitivity in Young Females with Recent-Onset Anorexia Nervosa and Recovered Individuals

<div><p>Introduction</p><p>Olfaction may be related to food restriction and weight loss. However, reports regarding olfactory function in individuals with anorexia nervosa (AN) have been inconclusive.</p><p>Objective</p><p>Characterize olfactory sensitivity and identification in female adolescents and young adults with first-episode AN and young females recovered from AN.</p><p>Methods</p><p>We used the Sniffin’ Sticks Odor Threshold Test and Odor Identification Test to assess 43 participants with first-episode AN, 27 recovered participants, and 39 control participants. Participants completed the Importance of Olfaction questionnaire, the Beck Youth Inventory and the Eating Disorder Inventory. We also conducted a psychiatric diagnostic interview and the Autism Diagnostic Observation Schedule with participants.</p><p>Results</p><p>Both clinical groups showed heightened olfactory sensitivity. After excluding participants with depression, participants with first-episode AN identified more odors than recovered participants.</p><p>Conclusion</p><p>Heightened olfactory sensitivity in AN may be independent of clinical status, whereas only individuals with current AN and without depression show more accurate odor identification.</p></div

Sniffin´Sticks Odor Identification Test and Odor Threshold Test results.

<p>Sniffin´Sticks Odor Identification Test and Odor Threshold Test results.</p

Importance of Olfaction Questionnaire results, age weighted mean.

<p>Importance of Olfaction Questionnaire results, age weighted mean.</p

Unadjusted and adjusted olfaction test score means with confidence intervals.

<p>Unadjusted and adjusted olfaction test score means with confidence intervals.</p

Demographic and clinical characterization of participants with first-episode AN, participants recovered from AN, and controls.

<p>Demographic and clinical characterization of participants with first-episode AN, participants recovered from AN, and controls.</p

Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57

AbstractBackground: Transient neonatal diabetes mellitus 1 (TNDM1) is a rare imprinting disorder characterized byintrautering growth retardation and diabetes mellitus usually presenting within the first six weeks of life andresolves by the age of 18 months. However, patients have an increased risk of developing diabetes mellitus type 2later in life. Transient neonatal diabetes mellitus 1 is caused by overexpression of the maternally imprinted genesPLAGL1 and HYMAI on chromosome 6q24. One of the mechanisms leading to overexpression of the locus ishypomethylation of the maternal allele of PLAGL1 and HYMAI. A subset of patients with maternal hypomethylationat PLAGL1 have hypomethylation at additional imprinted loci throughout the genome, including GRB10, ZIM2(PEG3), MEST (PEG1), KCNQ1OT1 and NESPAS (GNAS-AS1). About half of the TNDM1 patients carry mutations in ZFP57,a transcription factor involved in establishment and maintenance of methylation of imprinted loci. Our objectivewas to investigate whether additional regions are aberrantly methylated in ZFP57 mutation carriers.Methods: Genome-wide DNA methylation analysis was performed on four individuals with homozygous orcompound heterozygous ZFP57 mutations, three relatives with heterozygous ZFP57 mutations and five controls.Methylation status of selected regions showing aberrant methylation in the patients was verified usingbisulfite-sequencing.Results: We found large variability among the patients concerning the number and identity of the differentiallymethylated regions, but more than 60 regions were aberrantly methylated in two or more patients and a novelregion within PPP1R13L was found to be hypomethylated in all the patients. The hypomethylated regions incommon between the patients are enriched for the ZFP57 DNA binding motif.Conclusions: We have expanded the epimutational spectrum of TNDM1 associated with ZFP57 mutations andfound one novel region within PPP1R13L which is hypomethylated in all TNDM1 patients included in this study.Functional studies of the locus might provide further insight into the etiology of the disease