The Role of Disordered Ubiquitination in Pre- and Post-natal Growth Restriction

每年都有许多孩子出生，他们很小，然后在童年时期生长缓慢;在一些情况下，当他们接受生长激素治疗时，这种情况甚至会继续下去。我们知道正常成长对孩子有多重要，这样他们才能从生活中得到最好的东西。这些孩子出生时身材矮小的原因往往是未知的。我们一直在研究一种名为3 M综合征的疾病，这是一种罕见的出生时身材矮小，出生后发育不良的原因。患有3 M的儿童在给予生长激素时也反应不佳。我们发现3 M的原因是一种叫做Cullin 7的基因的缺陷。Cullin 7存在于人体细胞中，有助于清除废物蛋白质。然而，我们并不确切知道Cullin 7如何影响生长。我们打算弄清楚Cullin 7是如何导致300万儿童出生时身材矮小，生长不良的。了解3 M生长缓慢背后的机制也可能有助于我们找出其他儿童出生时身材矮小的原因，并开发新的治疗方法来帮助更多的儿童更好地成长。

There are many children born each year who are small and then grow very slowly in childhood; in some this even continues when they are given treatment with growth hormone. We know how important it is for a child to grow normally so they can get the best from their lives. Often the cause for these children being born small is not known. We have been working on a condition called 3M syndrome, which is a rare cause of being born small and then not growing well after birth. Children with 3M also respond poorly when given growth hormone. We have found that the cause of 3M is a fault in a gene called Cullin 7.Cullin 7 is found in cells in the body and helps to clear away waste proteins. However we do not know exactly how Cullin 7 affects growth. We intend to work out how Cullin 7 results in 3M children being born small and growing poorly. Knowing the mechanism behind the slow growth in 3M may also help us to find out why other children are born small and to develop new treatments to help more of these children grow better.