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【bio-news】糖尿病一型基因发现
Diabetes gene found
NEW DELHI: In a discovery that could help prevent children from becoming diabetic, scientists have found a gene that increases a child's risk for type 1 diabetes.
In the breakthrough, scientists have found that the gene KIAA0350 on chromosome 16 triggers the immune system cells to attack the pancreas. It is the loss of insulin-producing islet cells in the pancreas that causes type 1 or juvenile diabetes. The team from the Children's Hospital of Philadelphia and McGill University in Montreal have announced their findings in the July 15 issue of the journal Nature.
During the study, investigators examined the genomes of 1,046 children with type 1 diabetes from paediatric diabetes clinics in Philadelphia and four Canadian cities. The researchers then compared the genomes of 563 patients with type 1 diabetes with those of 1,146 matched control subjects.
The researchers confirmed the four previously identified genes contributing to type 1 diabetes, but also stumbled upon a new type 1 diabetes variation on chromosome 16, occupied by the gene KIAA0350.
Hakon Hakonarson, director of the Centre for Applied Genomics at the Children's Hospital of Philadelphia, said, "The role of KIAA0350 needs to be investigated. However, a special cell type called a natural killer (NK) cell expresses this gene abundantly. Our hypothesis is that a special mutation in KIAA0350 may influence the sugar binding of the protein and trigger an autoimmune response that activates these NK cells in such a way that they attack and destroy the islet cells in the pancreas, resulting in type 1 diabetes."
"A particular version of the gene protects against this inappropriate autoimmune response, while a different version of the gene makes it more likely to happen," he added. According to Dr Anoop Mishra from Fortis, a complicated disease like diabetes will have atleast 8-10 genes that influence various aspects of the disease. While some will trigger diabetes early, others will cause complications early or lead to higher BP in some patients. Some genes will also control all aspects of the disease.
This research adds a new gene to the four genes previously discovered for type 1 diabetes, in which the immune system destroys insulin-producing beta cells in the pancreas and makes patients dependent on frequent insulin injections to keep the body's blood sugar under control.
Constantin Polychronakos, director of Paediatric Endocrinology at McGill University, said that better knowledge of genes that predispose to type 1 diabetes may later enable physicians to screen newborns to predict those at high risk for the disease. "If we know the gene pathways that give rise to type 1 diabetes, we hope to intervene early in life with targeted drugs or cell therapies to prevent the disease from developing," said Polychronakos. 本人已认领该文编译，48小时后若未提交译文，请其他战友自由认领。
NEW DELHI: In a discovery that could help prevent children from becoming diabetic, scientists have found a gene that increases a child's risk for type 1 diabetes.
新德里：科学家们已经发现增加儿童患1型糖尿病风险的基因，该发现有助于预防儿童糖尿病。
In the breakthrough, scientists have found that the gene KIAA0350 on chromosome 16 triggers the immune system cells to attack the pancreas. It is the loss of insulin-producing islet cells in the pancreas that causes type 1 or juvenile diabetes. The team from the Children's Hospital of Philadelphia and McGill University in Montreal have announced their findings in the July 15 issue of the journal Nature.
在这突破性的研究中，科学家们发现位于16号染色体的KIAA0350基因，可触发免疫细胞攻击胰腺。分泌胰岛素的胰岛细胞缺失是引起1型糖尿病或青少年糖尿病的原因。来日费城儿童医院和蒙特利尔麦吉尔大学的研究组在7月15日的《自然》发表了他们的研究结果。
During the study, investigators examined the genomes of 1,046 children with type 1 diabetes from paediatric diabetes clinics in Philadelphia and four Canadian cities. The researchers then compared the genomes of 563 patients with type 1 diabetes with those of 1,146 matched control subjects.
在研究期间，研究人员检测了在费城和4个加拿大城市的儿童糖尿病门诊就诊的1046例1型糖尿病儿童的染色体。然后对比了563例1型糖尿病患者的染色体与这1146个研究对象的区别。
The researchers confirmed the four previously identified genes contributing to type 1 diabetes, but also stumbled upon a new type 1 diabetes variation on chromosome 16, occupied by the gene KIAA0350.
研究者证实了前期研究的发现——4个基因与1型糖尿病有关，但无意中还发现了一个位于16号染色体的与1型糖尿病有关的新基因——KIAA0350。
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作者:admin@医学,生命科学 2011-02-17 05:12
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