Genetics of Obesity in Humans: A Clinical Review

Mahmoud, Ranim; Kimonis, Virginia; Butler, Merlin G.

doi:10.3390/ijms231911005

Cited by 56 publications

(57 citation statements)

References 99 publications

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“…This difference may be due to more weight loss opportunities for females than males. (12,13) Previous findings also document more weight loss among females than males. ( Contradictory 14,15,16,17) findings were reported in Retrofit study population where males experienced more weight loss than females.…”

Section: Discussionmentioning

confidence: 94%

Body Weight Outcomes Among G-plan Application Users: A Retrospective Study

JMMDC¹

2022

JMMDC

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Objective: G-plan is a personalized weight management mobile application solution. This study aimed to report G-plan weight-loss outcomes and characterize those factors with major positive correlations to weight loss.Place of Study: G-plan app users, G-plan is a tailored weight management mobile application solution.Study Design: A retrospective cross-sectional studyDuration of Study: April 2015 to May 2020Methodology: A retrospective analysis was performed with results obtained between April 2015 to May 2020 with participants (N=794) enrolled in a G-plan program that included the mobile app. The study followed a Non-probability consecutive sampling design, both males and females aged between 18-60 years were enrolled. Participants had an initial weight of >80 lbs and <350 lbs. The percentage of participants who achieved 5% or greater weight loss was classified as successful participants. Characterized behaviors were evaluated, including self-monitoring through weight logs, the number of weeks using the app, as well as other characteristics of the population (sex, weight, body fat). Statistical analysis was performed using Microsoft Excel and RegressIt (version 2020.03.04).Results: Among the participants, 47.79% reported a decrease in body weight while they were using the app with 4.04% experiencing more than 5% weight loss compared with baseline weight. Among the participants, 37.78% of males experienced a weight loss of <5%, in comparison to females who experienced a decrease of <5% in weight loss in 44.21% of cases. No male experienced a decrease between 5- 10%, with 3.74% of females experiencing a weight loss between 5-10%Conclusion: Further research is needed to produce clinically significant results for users, emphasizing the effects of weight and daily caloric intake registration as significantly related to weight loss

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Section: Discussionmentioning

confidence: 94%

Body Weight Outcomes Among G-plan Application Users: A Retrospective Study

JMMDC¹

2022

JMMDC

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“…This leads to leptin resistance, and the underlying mechanisms are diverse, including impaired ObRb signaling, changes in hypothalamic neural wiring, reduced brain leptin transport and ObRb trafficking, endoplasmic reticulum stress, and, frequently, low-grade inflammation [ 143 ]. Through genome-wide association studies and next-generation sequencing, approximately 500 obesity-related genes were identified, with mutations in some of these genes, including leptin and its receptor genes, POMC, MC4R, BDNF, prohormone convertase 1, unique homologue 1, and neurotrophic receptor tyrosine kinase type 2, having been reported to cause obesity [ 144 ]. In this section, the first two will be described.…”

Section: Functionality Of Leptin and Its Involvement In Pathologymentioning

confidence: 99%

Recent Advances in the Knowledge of the Mechanisms of Leptin Physiology and Actions in Neurological and Metabolic Pathologies

Casado

Collado-Pérez

Frago

et al. 2023

IJMS

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Excess body weight is frequently associated with low-grade inflammation. Evidence indicates a relationship between obesity and cancer, as well as with other diseases, such as diabetes and non-alcoholic fatty liver disease, in which inflammation and the actions of various adipokines play a role in the pathological mechanisms involved in these disorders. Leptin is mainly produced by adipose tissue in proportion to fat stores, but it is also synthesized in other organs, where leptin receptors are expressed. This hormone performs numerous actions in the brain, mainly related to the control of energy homeostasis. It is also involved in neurogenesis and neuroprotection, and central leptin resistance is related to some neurological disorders, e.g., Parkinson’s and Alzheimer’s diseases. In peripheral tissues, leptin is implicated in the regulation of metabolism, as well as of bone density and muscle mass. All these actions can be affected by changes in leptin levels and the mechanisms associated with resistance to this hormone. This review will present recent advances in the molecular mechanisms of leptin action and their underlying roles in pathological situations, which may be of interest for revealing new approaches for the treatment of diseases where the actions of this adipokine might be compromised.

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“…NTRK2 is a neurotropin (NT-3) receptor that is critical for neuronal development. Mutations in this gene result in obesity 30 and mood disorders 31 . PRKCA codes for protein kinase C-alpha 32 that has been associated with ASD 33 , while TEK codes for TIE2, and is expressed almost exclusively in the vascular system 34 .…”

Section: Genetic Variants and Differentially Expressed Genes In The A...mentioning

confidence: 99%

Autism-specific PTEN p.I135L mutation and an autism genetic background combine to dysregulate cortical neurogenesis

Bury

Eum

et al. 2022

Preprint

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Alterations in cortical neurogenesis are implicated in neurodevelopmental disorders including autism spectrum disorders (ASDs). The contribution of genetic backgrounds, in additional to ASD risk genes, on cortical neurogenesis remain understudied. Here, using isogenic induced pluripotent stem cell (iPSC)-derived neural progenitor cells (NPCs) and cortical organoid models, we report that a heterozygous PTEN p.I135L mutation found in an ASD patient with macrocephaly activates PI3K/AKT and dysregulates cortical neurogenesis in an ASD genetic background-dependent fashion. Transcriptome analysis at both bulk and single cell level revealed PTEN p.I135L mutation and ASD genetic background affected genes involved in neurogenesis, neural development and synapse signaling. We also found that this PTEN p.I135L mutation led to overproduction of NPC subtypes as well as neuronal subtypes including both deep and upper layer neurons in its ASD background, but not when introduced into a control genetic background. These findings provide experimental evidence that both a PTEN p.I135L mutation and ASD genetic background contribute to cellular features consistent with ASD associated with macrocephaly.

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Genetics of Obesity in Humans: A Clinical Review

Cited by 56 publications

References 99 publications

Body Weight Outcomes Among G-plan Application Users: A Retrospective Study

Body Weight Outcomes Among G-plan Application Users: A Retrospective Study

Recent Advances in the Knowledge of the Mechanisms of Leptin Physiology and Actions in Neurological and Metabolic Pathologies

Autism-specific PTEN p.I135L mutation and an autism genetic background combine to dysregulate cortical neurogenesis

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