研究人员对厄瓜多尔患有拉隆综合征的人群进行了长期研究,发现这一罕见遗传病可能为癌症预防提供关键突破口。[1]
拉隆综合征是一种全球罕见的遗传疾病,全球已知患者约840人,主要分布在厄瓜多尔南部。[1]一项历时22年的研究显示,患有该病的人群中未发现任何糖尿病病例,仅出现1例非致命癌症。[1]相比之下,身高正常的人群中5%患有糖尿病,17%患癌症。[1]
科学家认为这种显著的健康差异与患者体内胰岛素样生长因子1(IGF-1)水平较低密切相关。[1]然而,研究也发现部分在儿童期接受IGF-1治疗的患者同样未患癌症,这表明具体机制仍需进一步深入探讨。[1]
这项发现为未来开发预防癌症的药物或疗法提供了分子基础。[1]目前用于治疗拉隆综合征的药物Increlex成本高昂,每瓶超过800美元,患者每月至少需要三瓶,且该药物仅由一家制药公司生产。[1]
Researchers studying a rare genetic condition in Ecuador have uncovered findings that could reshape cancer prevention strategies. A 22-year investigation into Laron syndrome, a disorder affecting approximately 840 known individuals worldwide, revealed strikingly low rates of cancer and diabetes among patients compared to the general population. [1]
The study found that among Laron syndrome patients, no cases of diabetes occurred and only one non-fatal cancer was diagnosed, in stark contrast to general populations where 5% develop diabetes and 17% develop cancer. [1] Scientists believe the dramatically reduced disease risk may be linked to naturally low levels of insulin-like growth factor 1 (IGF-1) in the patients' bodies, offering a potential molecular foundation for developing cancer-preventive drugs or therapies. [1]
However, the precise mechanisms remain incompletely understood. Some patients who received IGF-1 treatment during childhood did not develop cancer, suggesting factors beyond IGF-1 deficiency may be at play. [1] Laron syndrome, concentrated primarily in southern Ecuador, represents a rare genetic condition requiring ongoing investigation to fully explain its protective effects against malignancy.
The condition is currently treated with the drug Increlex, which costs more than 800 dollars per bottle, with patients requiring at least three bottles monthly, and production controlled by a single pharmaceutical company. [1]