MAGI'S Lab, Genetic Testing Laboratory, Rovereto (TN), Italy.
Eur Rev Med Pharmacol Sci. 2019 Feb;23(3):1357-1378. doi: 10.26355/eurrev_201902_17031.
In this qualitative review we analyze the major pathways and mechanisms involved in the onset of genetically-determined obesity (Mendelian obesity), identifying possible pharmacological treatments and trials.
We searched PubMed with the keywords (obesity[Title/Abstract]) AND mutation[Title/Abstract], and OMIM with the keyword "obesity". In both cases, we selected non-syndromic Mendelian obesity. We then searched ClinicalTrials.gov with the following criteria: "recruitment status: active, not recruiting and completed"; "study type: interventional (clinical trial)"; "study results: with results"; type of intervention: "drug or dietary supplement".
From the PubMed and OMIM searches we obtained a total of 15 genes associated with monogenic Mendelian obesity. From ClinicalTrials.gov we retrieved 46 completed or active trials of pharmacological treatments.
We summarized the molecular bases of Mendelian obesity and searched for any clinical trials completed or underway for the treatment of severe forms of obesity. Most Mendelian obesities are linked to dysfunctions in the leptin/melanocortin signaling pathway, and most of the possible drugs target this pathway in order to improve energy expenditure and reduce food intake.
在这项定性综述中，我们分析了遗传决定型肥胖（孟德尔肥胖症）发病的主要途径和机制，确定了可能的药物治疗方法和试验。
我们在 PubMed 中使用关键词（肥胖[标题/摘要]）和突变[标题/摘要]进行搜索，并在 OMIM 中使用关键词“肥胖”进行搜索。在这两种情况下，我们都选择了非综合征性的孟德尔肥胖症。然后，我们在 ClinicalTrials.gov 中使用以下标准进行搜索：“招募状态：活跃、不招募和已完成”；“研究类型：干预性（临床试验）”；“研究结果：有结果”；干预类型：“药物或膳食补充剂”。
从 PubMed 和 OMIM 的搜索中，我们总共获得了 15 个与单基因孟德尔肥胖症相关的基因。从 ClinicalTrials.gov 中，我们检索到 46 项已完成或正在进行的药物治疗临床试验。
我们总结了孟德尔肥胖症的分子基础，并搜索了任何已完成或正在进行的治疗严重肥胖症的临床试验。大多数孟德尔肥胖症与瘦素/黑素皮质素信号通路的功能障碍有关，大多数可能的药物都针对该通路，以提高能量消耗和减少食物摄入。
