Unraveling Leptin's Influence: Sleep Abnormalities in Obesity-Related Neurogenetics

Authors

  • José Colón-Soto Department of Pediatrics, Ponce Health Sciences University, School of Medicine, Ponce, PR, USA Author
  • Bryan Vega-Sanabria Department of Pediatrics, Ponce Health Sciences University, School of Medicine, Ponce, PR, USA Author
  • Roberto A. Cardona-Quiñones Department of Psychiatry, University of Puerto Rico, School of Medicine, San Juan, PR, USA Author
  • Alexandra Balsalobre Vélez Department of Psychiatry, University of Puerto Rico, School of Medicine, San Juan, PR, USA Author
  • Simón Carlo-Torres, MD Department of Pediatrics, Ponce Health Sciences University, School of Medicine, Ponce, PR, USA Author
  • Jesús Meléndez-Montañez, MD Department of Pediatrics, Ponce Health Sciences University, School of Medicine, Ponce, PR, USA Author
  • Wilfredo De Jesús-Rojas, MD, FAAP, MSc, ATSF Department of Pediatrics, Ponce Health Sciences University, School of Medicine, Ponce, PR, USA Author

DOI:

https://doi.org/10.71332/cv0z6q31

Keywords:

leptin receptor variants, early-onset diabetes, obstructive sleep apnea

Abstract

The role of early-onset obesity-related genetic predisposition and leptin receptor variants have been previously studied. However, studies involving sleep-related disorders linked to a genetic predisposition, leading to obesity, and how leptin could play a role in sleep-related disorders have been limited. In this study, we explore a case of how leptin receptor variants could play a role in the relationship between obesity and sleep-related disorders. We present a case of a morbidly obese (BMI of 62.87 kg/m2) Puerto Rican teenage female with a past medical history of type 2 diabetes mellitus, hypothyroidism, essential primary hypertension, and obstructive sleep apnea (OSA), who was evaluated due to complications regarding sleeping difficulties, despite being on Continuous Positive Airway Pressure (CPAP) treatment. Genetic studies performed to assess the causes of obesity revealed BBS9 heterozygous gene for a sequence variant defined as c.396GC and heterozygous LEPR gene for a sequence variant defined as c.658GA, which has been associated with an increased predisposition to obesity. This case report emphasizes the value of genetic research in figuring out the root causes of obesity and its comorbidities, especially in cases of early-onset obesity and co-occurring disorders such as OSA. The discovery of genetic variations in LEPR and BBS9 genes offers crucial information on potential mechanisms underlying the clinical phenotype of the patient.

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2025-07-14

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Vol. 1 No. 1 (2025): Ponce Health Sciences University Scientific Journal - First Issue

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