Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Genes from the 18th century help patients of today

07.01.2011
Mainz University Paleogenetics Group participates in study of acromegaly attributable to genetic mutation / Publication in renowned New England Journal of Medicine

An international research team, spearheaded by scientists from the London School of Medicine and Dentistry, has identified the genetic mutation responsible for a disease known as "gigantism" or acromegaly. The results of the study – conducted, among others, by the Paleogenetics Group of the Institute of Anthropology at Johannes Gutenberg University Mainz (JGU), Germany – were recently published in the renowned New England Journal of Medicine. It is hoped that these will help in the treatment of patients suffering from acromegaly.

Gigantism is known to be caused by a tumor of the pituitary gland, a gland located at the base of the brain from where it releases hormones that regulate several functions of the body – one being growth. Pituitary tumors can cause tissues to grow abnormally resulting in certain changes in facial appearance, enlarged hands and feet, headache and sweating – eyesight too can be affected; this condition is called acromegaly.

Márta Korbonits, Professor of Endocrinology and Metabolism at Barts and the London School of Medicine and Dentistry, initially looked at the aryl hydrocarbon receptor interacting protein (AIP) gene. It has been known since 2006 that defects to this gene are associated with a predisposition to development of pituitary tumors, and Professor Korbonits was able to identify a specific genetic mutation in Irish patients with a family history of acromegaly. Leading international paleogenetics experts Professor Dr Joachim Burger and Martina Unterländer of the Institute of Anthropology at Johannes Gutenberg University Mainz, Germany subsequently extracted and analyzed the DNA from the skeleton of an 18th-century acromegaly patient preserved in the Hunterian Museum in London. The research team discovered exactly the same mutation as the one found in living patients. Further analyses of other DNA segments located in the vicinity of this gene led to the conclusion that the Hunterian Museum's so-called "Irish Giant" had inherited the mutation from a common ancestor that he shared with a number of living Irish families who are suffering from this hereditary disorder today. The subsequent complex biostatistical calculations showed that the original mutation developed around 1,500 years ago and has been passed on from generation to generation ever since. It is estimated that around 200 to 300 people still carry the mutation today.

"The ancient DNA from the skeleton has enabled us to confirm the hypothesis that there is indeed a link between the mutation and this disease, a disorder which in the past so often resulted in tragedy," explains Professor Joachim Burger from Mainz University. He continues: "The biomathematical calculations have even provided us with a highly accurate insight into the history of this illness." Márta Korbonits, head of the study, adds: " The most important clinical aspect of our study is that it is now possible to trace down carriers of this gene in time and treat patients before they grow to be a giant." Professor Patrick Morrison, co-author of the study, concludes: "The benefits to patients locally are that we now have a genetic blood test that families at risk of this condition can choose to have, which allows early detection and prevention of excessive growth."

Petra Giegerich | idw
Further information:
http://www.uni-mainz.de/eng/13999.php
http://www.nejm.org/doi/pdf/10.1056/NEJMoa1008020

More articles from Life Sciences:

nachricht New type of photosynthesis discovered
17.06.2018 | Imperial College London

nachricht New ID pictures of conducting polymers discover a surprise ABBA fan
17.06.2018 | University of Warwick

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: AchemAsia 2019 will take place in Shanghai

Moving into its fourth decade, AchemAsia is setting out for new horizons: The International Expo and Innovation Forum for Sustainable Chemical Production will take place from 21-23 May 2019 in Shanghai, China. With an updated event profile, the eleventh edition focusses on topics that are especially relevant for the Chinese process industry, putting a strong emphasis on sustainability and innovation.

Founded in 1989 as a spin-off of ACHEMA to cater to the needs of China’s then developing industry, AchemAsia has since grown into a platform where the latest...

Im Focus: First real-time test of Li-Fi utilization for the industrial Internet of Things

The BMBF-funded OWICELLS project was successfully completed with a final presentation at the BMW plant in Munich. The presentation demonstrated a Li-Fi communication with a mobile robot, while the robot carried out usual production processes (welding, moving and testing parts) in a 5x5m² production cell. The robust, optical wireless transmission is based on spatial diversity; in other words, data is sent and received simultaneously by several LEDs and several photodiodes. The system can transmit data at more than 100 Mbit/s and five milliseconds latency.

Modern production technologies in the automobile industry must become more flexible in order to fulfil individual customer requirements.

Im Focus: Sharp images with flexible fibers

An international team of scientists has discovered a new way to transfer image information through multimodal fibers with almost no distortion - even if the fiber is bent. The results of the study, to which scientist from the Leibniz-Institute of Photonic Technology Jena (Leibniz IPHT) contributed, were published on 6thJune in the highly-cited journal Physical Review Letters.

Endoscopes allow doctors to see into a patient’s body like through a keyhole. Typically, the images are transmitted via a bundle of several hundreds of optical...

Im Focus: Photoexcited graphene puzzle solved

A boost for graphene-based light detectors

Light detection and control lies at the heart of many modern device applications, such as smartphone cameras. Using graphene as a light-sensitive material for...

Im Focus: Water is not the same as water

Water molecules exist in two different forms with almost identical physical properties. For the first time, researchers have succeeded in separating the two forms to show that they can exhibit different chemical reactivities. These results were reported by researchers from the University of Basel and their colleagues in Hamburg in the scientific journal Nature Communications.

From a chemical perspective, water is a molecule in which a single oxygen atom is linked to two hydrogen atoms. It is less well known that water exists in two...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Munich conference on asteroid detection, tracking and defense

13.06.2018 | Event News

2nd International Baltic Earth Conference in Denmark: “The Baltic Sea region in Transition”

08.06.2018 | Event News

ISEKI_Food 2018: Conference with Holistic View of Food Production

05.06.2018 | Event News

 
Latest News

A sprinkle of platinum nanoparticles onto graphene makes brain probes more sensitive

15.06.2018 | Materials Sciences

100 % Organic Farming in Bhutan – a Realistic Target?

15.06.2018 | Ecology, The Environment and Conservation

Perovskite-silicon solar cell research collaboration hits 25.2% efficiency

15.06.2018 | Power and Electrical Engineering

VideoLinks
Science & Research
Overview of more VideoLinks >>>