说到糖尿病,基因只是其中的一部分。

通过阿曼达·加德纳
2021年7月26日,
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专家们已经确定了一些导致1型糖尿病,但肯定还有更多的有待发现。但基因只是部分的故事。大多数专家认为只有特定的基因突变使你会患上1型糖尿病,同时需要额外的环境因素来激活这些基因。

克利夫兰诊所的内分泌学家利安·奥兰斯基医学博士说:“遗传因素确实很重要,但并不是唯一的原因。健康.“环境条件触发了这一过程。”

这是我们所知道的关于复杂的基因图谱1型糖尿病

的遗传学- - - 1型糖尿病一些——1188431951
来源:盖蒂图片社

什么是1型糖尿病?

1型糖尿病是一种糖尿病自身免疫性疾病这就干扰了生物学最基本的过程之一:确保我们的身体能获得糖。

简而言之,一个失控的免疫系统错误地破坏了产生胰岛素的胰腺细胞。我们需要胰岛素将食物中的糖分从血液中转移到细胞中,在细胞中储存糖分作为能量。没有胰岛素,血糖水平会上升到很高的水平,并可能导致昏迷甚至死亡。

1型糖尿病是一种终生疾病,需要终生胰岛素替代疗法来控制它。

有“糖尿病基因”吗?

科学家还没有发现导致1型糖尿病的基因。相反,他们发现了一种叫做人类白细胞抗原(HLA)复合体的基因突变。这些突变的特定组合(称为单倍型)似乎增加了患1型糖尿病的风险。

新泽西内分泌和预防医学专家迪娜·阿迪穆兰医学博士说:“这些突变与人的免疫系统的变化有关,免疫系统的变化会刺激自身免疫系统破坏胰腺生产胰岛素的细胞,从而导致1型糖尿病。健康

具体来说,这些位于6号染色体上的基因,帮助免疫系统识别哪些化合物对身体来说是天然的,哪些不应该存在。没有这种能力,免疫系统就无法分辨哪些化合物是朋友,哪些是敌人。

同样的基因复合体也与其他自身免疫性疾病有关,这可能解释了1型糖尿病的另一个特征。

“1型糖尿病患者可能患有其他自身免疫性疾病,”奥兰斯基博士说。“它们可能有类似的途径。”

但HLA基因的变化只能解释约40%的1型糖尿病遗传风险。还有其他基因,不仅可以增加风险,也可以降低风险。奥兰斯基博士说:“还有很多其他基因可以改变这种风险,使其变得更大或更小。”

这种基因最常出现在白种人中,这是有道理的,因为1型糖尿病患者绝大多数是白种人。一种特定的基因突变(HLA-DR7)可能会增加非裔美国人的患病风险,而HLA-DR9可能会增加日本人的患病风险。

糖尿病的一种形式被称为MODY(年轻人的成熟型糖尿病),显然是由某些基因的变异引起的。虽然MODY有许多1型糖尿病的特征,但它并不完全相同。

1型糖尿病家族遗传吗?

导致1型糖尿病的基因变异在家族中遗传。Adimoolam博士说:“如果一个人有1型糖尿病家族史,那么他一生中患T1DM的风险会显著增加。”“一项研究表明,没有家族史的T1DM患病风险为0.4%。如果父母中有一人患有T1DM,他们的孩子患T1DM的风险会增加到3%-4%。”

奥兰斯基博士说,如果你的母亲或父亲患有1型糖尿病,你患此病的风险约为5%,而一般人群只有1%。

但即使是同卵双胞胎,风险也不一样。如果双胞胎中的一个患上了1型糖尿病,那么另一个也有50%的几率患上该疾病。

这意味着还有其他问题在起作用。奥兰斯基博士说:“你可以拥有这种基因,并且在情况发生之前受到相对的保护。”

1型糖尿病是否有环境诱因?

奥兰斯基博士说,大约25%的白种人的HLA类型与患1型糖尿病的风险明显相关,但实际上只有1%的人患有1型糖尿病。更重要的是,只有大约5%的真正突变的人会患上这种疾病。

那么,为什么这些基因突变会增加一些人的风险,而不是其他人呢?

同样,专家的知识仍处于初级阶段,但似乎有环境诱因使基因启动。没有人确切知道这些触发因素是什么,但有很多候选因素。

与1型糖尿病相关的妊娠相关因素包括母亲年龄超过25岁,子痫前期新生儿呼吸系统疾病,黄疸Adimoolam博士说。

也牵涉到某些病毒,即风疹柯萨基病毒,就像维生素D缺乏甚至暴露在寒冷的天气中。

但是,就像没有一个基因可以解释1型糖尿病一样,可能也没有一个环境诱因可以解释1型糖尿病。

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