In the current issue of PLoS Medicine Andrew Hattersley and colleagues from the Peninsular Medical School, report the findings from a study of 108 individuals from15 families where the mutation was present. Overall more than half of the babies who carried the mutation were defined as macrosomic compared with 13% of those with no mutations.
Macrosomia (birthweight more than 4000g) is associated with complications for both mothers and babies; one cause of macrosomia is diabetes in the mother. The particular type of diabetes investigated in this study is known as maturity-onset diabetes of the young (MODY) genes; two of the genes known to be involved in this disease are HNF4A and HNF1A/TCF1 both of which have a key role in the regulation of the secretion of insulin by the pancreas.In addition to increased birthweight the researchers also found that low blood-sugar levels at birth were also more common in babies carrying the HNF4A mutation as
compared to those who did not. In mice who lacked the equivalent mouse gene (Hnf4a) the researchers were able to show that there was high insulin during development and low blood sugar at birth.
Although this study is in patients with an unusual mutation, these results have wider implications as they establish that HNF4A is important in determining birthweight. However, the mechanism by which the same mutation also causes diabetes (ie with decreased insulin) in later life remains to be determined in view of the increased insulin shown to be present at birth that causes the low glucose. Nonetheless, the authors conclude that “in addition to maternal factors, paternal factors (including history of diabetes) should be considered when assessing macrosomia risk.” A related perspective by Benjamin Glaser from the Hadassah-Hebrew University Medical Center, discusses the paper’s implications further
Citation: Pearson ER, Boj SF, Steele AM, Barrett T, Stals K, et al. (2007) Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. PLoS Med 4(4): e118.
Andrew Hyde | alfa
Single-stranded DNA and RNA origami go live
15.12.2017 | Wyss Institute for Biologically Inspired Engineering at Harvard
New antbird species discovered in Peru by LSU ornithologists
15.12.2017 | Louisiana State University
DNA molecules that follow specific instructions could offer more precise molecular control of synthetic chemical systems, a discovery that opens the door for engineers to create molecular machines with new and complex behaviors.
Researchers have created chemical amplifiers and a chemical oscillator using a systematic method that has the potential to embed sophisticated circuit...
MPQ scientists achieve long storage times for photonic quantum bits which break the lower bound for direct teleportation in a global quantum network.
Concerning the development of quantum memories for the realization of global quantum networks, scientists of the Quantum Dynamics Division led by Professor...
Researchers have developed a water cloaking concept based on electromagnetic forces that could eliminate an object's wake, greatly reducing its drag while...
Tiny pores at a cell's entryway act as miniature bouncers, letting in some electrically charged atoms--ions--but blocking others. Operating as exquisitely sensitive filters, these "ion channels" play a critical role in biological functions such as muscle contraction and the firing of brain cells.
To rapidly transport the right ions through the cell membrane, the tiny channels rely on a complex interplay between the ions and surrounding molecules,...
The miniaturization of the current technology of storage media is hindered by fundamental limits of quantum mechanics. A new approach consists in using so-called spin-crossover molecules as the smallest possible storage unit. Similar to normal hard drives, these special molecules can save information via their magnetic state. A research team from Kiel University has now managed to successfully place a new class of spin-crossover molecules onto a surface and to improve the molecule’s storage capacity. The storage density of conventional hard drives could therefore theoretically be increased by more than one hundred fold. The study has been published in the scientific journal Nano Letters.
Over the past few years, the building blocks of storage media have gotten ever smaller. But further miniaturization of the current technology is hindered by...
11.12.2017 | Event News
08.12.2017 | Event News
07.12.2017 | Event News
15.12.2017 | Power and Electrical Engineering
15.12.2017 | Materials Sciences
15.12.2017 | Life Sciences