Context: The genomic organization of the LEPR gene is complex and generates three independent transcripts whose respective functions are still poorly understood.
Methods/results: We describe here a 7-year old patient with a homozygous 80 kb deletion in the chromosomal 1p31.3 region with early onset obesity, mental retardation and epilepsy. The deleted region comprises the proximal promoter and exons 1 and 2 of the LEPR gene and exons 5 to 19 of the DNAJC6 gene. The deletion leads to the deficiency of all canonical OB-R isoforms but maintains the B219 OB-R short isoforms controlled by the preserved second LEPR promoter. The DNAJC6 gene encodes auxilin-1, a protein required for clathrin-dependent recycling of synaptic vesicles in neurons that is possibly at the origin of the mental retardation and epilepsy phenotype. The obese phenotype and the absence of signaling-competent OB-R are consistent with previously reported individuals with OB-R deficiency. The deletion eliminates an additional transcript of the LEPR gene that encodes endospanin-1, a protein that has been genetically and biochemically linked to OB-R function.
Conclusions: Our study confirms the phenotype of individuals with OB-R deficiency and postulates the effects of auxilin-1 deficiency (mental retardation/epilepsy) and endospanin-1 deficiency (OB-R specific functions) in humans.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1016/j.ymgme.2012.04.026 | DOI Listing |
Ann Surg
December 2024
Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.
Objective: The aim was to assess fertility, sexual function and sexual quality of life in males with Hirschsprung's disease (HSCR) in the Nordic countries with a cross-sectional study using self-reported validated questionnaires.
Summary Background Data: Data on fertility and sexual function in males with HSCR are limited.
Methods: This multi-center study targeted all males born between 1970-2003 who underwent pull-through surgery at a pediatric surgery center in Sweden, Denmark, Norway, or Finland.
Exploration (Beijing)
December 2024
Department of Occupational and Environmental Health and the Ministry of Education Key Lab of Hazard Assessment and Control in Special Operational Environment, School of Public Health Fourth Military Medical University Xi'an China.
Alzheimer's disease (AD) is a debilitating systemic disorder that has a detrimental impact on the overall well-being of individuals. Emerging research suggests that long non-coding RNAs play a role in neural development and function. Nevertheless, the precise relationship between lncRNAs and Alzheimer's disease remains uncertain.
View Article and Find Full Text PDFHealth Care Transit
January 2024
Emeritus, UCSF, School of Nursing, Family Health Care Nursing, 2 Koret Way, N411Y, San Francisco, CA 94143-0606, USA.
Purpose: Young adults with autism spectrum disorder (YAASD) often lack the skills needed for successful adult living and subsequently develop lower quality of life and health in adulthood. Therefore, we developed a framework to support resilience and improve quality of life in YAASD, which will be used to develop a life-skills curriculum for YAASD.
Methods: We conducted a qualitative study of YAASD, parents of YAASD and service providers recruited from agencies that serve YAASD using Grounded Theory.
Health Care Transit
November 2024
Department of Medicine, Baylor College of Medicine, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77020, USA.
Background: As the prevalence of intellectual and developmental disabilities (IDD) has increased over time, more youth with IDD will be transitioning into adult care. Individuals with IDD have a spectrum of behavioral, medical, adaptive, and home/community support needs depending on their cognitive ability, behavior concerns, mobility impairment, and/or medical complexity. Unfortunately, data suggests that adult primary care providers often lack knowledge about the condition-specific medical and adaptive needs of the IDD population leading to decreased access to adequate primary care.
View Article and Find Full Text PDFHealth Care Transit
August 2024
Department of Pediatrics, Northwestern, Ann & Robert H. Lurie Children's Hospital of Chicago Box 152, 225 E Chicago Avenue, Chicago, IL 60611, USA.
Purpose: Structured HCT models addressing planning, transfer, and integration into adult care for adolescents and young adults with childhood-acquired chronic conditions are becoming more prevalent. However, consensus on outcome measures to assess health care transition (HCT) interventions particularly for intellectual and developmental disabilities (IDD) population is lacking. This scoping review identified potential HCT outcome measures for young adults (aged 18-26) with IDD using the Quadruple Aim Framework.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!