Monthly Archives: February 2014

Current ratings for: Schizophrenia risk increases 10-fold with genetic mutation

Public / Patient:

3.7 6 ratings

Health Professionals:

0 0 ratings

Researchers from Trinity College in Dublin, Ireland, have identified a risk gene mutation for schizophrenia and bipolar disorder that increases chances of developing the conditions by more than 10-fold. The team says they found this mutation is inherited from a distant but common European ancestor.

The international team, led by Prof. Aiden Corvin at Trinity's School of Medicine, says identifying this genetic mutation provides the medical community with insight into potential risk mechanisms for these disorders, the cause of which is poorly understood.

Results of their study are published in the journal Human Molecular Genetics.

Although treatments are available for schizophrenia and bipolar disorder, and evidence is increasingly suggesting these disorders share common genetic risk factors, the team says response to treatments varies and knowledge of the underlying biology has mostly eluded scientists.

Bipolar disorder affects around 4% of the world's population, and schizophrenia impacts around 51 million people around the world (about 1% of the world's population), the team says.

Go here to read the rest:
Schizophrenia risk increases 10-fold with genetic mutation

Gene mutation increases disorders risk tenfold

Friday, February 14, 2014

A rare gene mutation that increases the risk of developing schizophrenia or bipolar disorder more than tenfold has been identified by medical scientists at Trinity College Dublin.

Aiden Corvin, professor in psychiatry at the School of Medicine at Trinity and head of the Psychosis Research Group, said the Irish population may be advantageous for this type of gene discovery programme.

Because of the population history of Ireland, we as a people are more closely related than in more diverse populations, so we were able to pick up on this mutation in the Irish descendants of this person, said Prof Corvin. We believe more is to be found in the Irish population and this will help us to reach a more general understanding about the nature of these disorders.

Scientists examined blood samples from more than 1,564 Irish people with schizophrenia and 1,748 people without to look for small structural variations where genetic material is duplicated or deleted in the genome. They identified five patients where part of a gene called protein-activated kinase 7 was duplicated. Such duplications were not found in the control group.

Once the mutation was identified, researchers were able to check for it in schizophrenia and bipolar disorder samples from a European sample of more than 25,000 people. This confirmed that the duplication, although rare, increased risk of developing schizophrenia or bipolar disorder more than tenfold.

The duplications appeared similar in all cases and the authors found the duplication carriers are all likely to share a single mutation inherited from a distant, common European ancestor.

Prof Corvin said the finding demonstrates the power of gene discovery to provide new insights into poorly understood but potentially devastating disorders.

Irish Examiner Ltd. All rights reserved

Read the rest here:
Gene mutation increases disorders risk tenfold

PUBLIC RELEASE DATE:

13-Feb-2014

Contact: Lisa Larson lisa.larson@umassmed.edu 508-856-2000 University of Massachusetts Medical School

WORCESTER, MA Everyday our cells take in nutrients from food and convert them into the building blocks that make life possible. However, it has been challenging to pinpoint exactly how a single nutrient or vitamin changes gene expression and physiology. Scientists at the University of Massachusetts Medical School have developed a novel interspecies model system that allows these questions to be answered. In a study appearing in the journal Cell, UMMS researchers use this new approach to show how bacterially supplied vitamin B12 changes gene expression, development and fertility in the model organism C. elegans.

"In mammals, micronutrients are provided by a combination of diet and gut flora," said A.J. Marian Walhout, PhD, co-director of the Program in Systems Biology and professor of molecular medicine at UMMS and senior author of the study. "We've developed a powerful approach that can be used to unravel the complex interaction between nutrients, gene expression and physiology by systematically studying both the predator (worm) and the prey (bacteria). With it we can begin to answer important questions about how what we eat affects how we function."

The key to the study was a set of complimentary genetic screens performed on the transparent roundworm C. elegans and two kinds of bacteria that comprised the worm's diet Comamonas and E. coli. In a pair of papers published last year, Walhout and colleagues described dramatic changes in gene expression between worms fed only Comamonas and those fed only E. coli bacteria. Linked to these genetic changes were profound physiological differences between the worms. Comamonas-fed worms developed faster and were less fertile than their E. coli-fed counterparts.

By genetically dissecting the two bacteria and using a special C. elegans strain developed to sense changes to diet-related gene expression, Walhout and colleagues were able to zero in on a set of genes present in Comamonas but absent from E. coli. Further testing confirmed that these genes were responsible for producing vitamin B12 in Comamonas and it was the presence of the micronutrient that accounted for the genetic and physiological differences seen between the worms on different diets.

Importantly, Walhout found that vitamin B12 fulfills two important functions in C. elegans: It helps regulate development through the methionine/SAM cycle, which is needed for the production of cell membranes in new cells. It also alleviates potentially toxic buildups of the short-chain fatty acid propionic acid, which can alter gene expression or harm cells.

"C. elegans fed E. coli are actually vitamin B12 deficient and this reflects only one natural state of the animal," said Walhout. "Because E. coli has been the standard laboratory diet for decades it would be interesting to study other characteristics of the worm, such as behavior, mating and movement, on a vitamin B12 rich diet."

Walhout and colleagues say that this system can also be adapted to identify genetic and physiological changes caused by other micronutrients in C. elegans. With the proper human analogs, it's possible that we could one day predict the precise interaction between diet, gene expression and physiology that occurs when we eat a carrot, hamburger, steak or any other food. Doing so might someday lead to new insights into a variety of conditions or diseases such as high cholesterol, heart disease, diabetes and obesity. It can also be used to explore the precise benefits of bacteria found in gut flora.

Originally posted here:
Vitamin B12 accelerates worm development

Everyday our cells take in nutrients from food and convert them into the building blocks that make life possible. However, it has been challenging to pinpoint exactly how a single nutrient or vitamin changes gene expression and physiology. Scientists at the University of Massachusetts Medical School have developed a novel interspecies model system that allows these questions to be answered. In a study appearing in the journal Cell, UMMS researchers use this new approach to show how bacterially supplied vitamin B12 changes gene expression, development and fertility in the model organism C. elegans.

"In mammals, micronutrients are provided by a combination of diet and gut flora," said A.J. Marian Walhout, PhD, co-director of the Program in Systems Biology and professor of molecular medicine at UMMS and senior author of the study. "We've developed a powerful approach that can be used to unravel the complex interaction between nutrients, gene expression and physiology by systematically studying both the predator (worm) and the prey (bacteria). With it we can begin to answer important questions about how what we eat affects how we function."

The key to the study was a set of complimentary genetic screens performed on the transparent roundworm C. elegans and two kinds of bacteria that comprised the worm's diet -- Comamonas and E. coli. In a pair of papers published last year, Walhout and colleagues described dramatic changes in gene expression between worms fed only Comamonas and those fed only E. coli bacteria. Linked to these genetic changes were profound physiological differences between the worms. Comamonas-fed worms developed faster and were less fertile than their E. coli-fed counterparts.

By genetically dissecting the two bacteria and using a special C. elegans strain developed to sense changes to diet-related gene expression, Walhout and colleagues were able to zero in on a set of genes present in Comamonas but absent from E. coli. Further testing confirmed that these genes were responsible for producing vitamin B12 in Comamonas and it was the presence of the micronutrient that accounted for the genetic and physiological differences seen between the worms on different diets.

Importantly, Walhout found that vitamin B12 fulfills two important functions in C. elegans: It helps regulate development through the methionine/SAM cycle, which is needed for the production of cell membranes in new cells. It also alleviates potentially toxic buildups of the short-chain fatty acid propionic acid, which can alter gene expression or harm cells.

"C. elegans fed E. coli are actually vitamin B12 deficient and this reflects only one natural state of the animal," said Walhout. "Because E. coli has been the standard laboratory diet for decades it would be interesting to study other characteristics of the worm, such as behavior, mating and movement, on a vitamin B12 rich diet."

Walhout and colleagues say that this system can also be adapted to identify genetic and physiological changes caused by other micronutrients in C. elegans. With the proper human analogs, it's possible that we could one day predict the precise interaction between diet, gene expression and physiology that occurs when we eat a carrot, hamburger, steak or any other food. Doing so might someday lead to new insights into a variety of conditions or diseases such as high cholesterol, heart disease, diabetes and obesity. It can also be used to explore the precise benefits of bacteria found in gut flora.

"It turns out a single transgenic worm is a powerful tool for exploring the complex interaction between macro and micronutrients, gene expression and physiology," said Emma Watson, a doctoral student in the Walhout Lab and first author on the Cell study.

Story Source:

The above story is based on materials provided by University of Massachusetts Medical School. Note: Materials may be edited for content and length.

Read more from the original source:
Vitamin B12 accelerates worm development: New model for isolating the effects of nutrients on gene expression and ...

Everyday our cells take in nutrients from food and convert them into the building blocks that make life possible. However, it has been challenging to pinpoint exactly how a single nutrient or vitamin changes gene expression and physiology. Scientists at the University of Massachusetts Medical School have developed a novel interspecies model system that allows these questions to be answered. In a study appearing in the journalCell, UMMS researchers use this new approach to show how bacterially supplied vitamin B12 changes gene expression, development and fertility in the model organismC. elegans.

In mammals, micronutrients are provided by a combination of diet and gut flora, said A.J. Marian Walhout, PhD, co-director of the Program in Systems Biology and professor of molecular medicine at UMMS and senior author of the study. Weve developed a powerful approach that can be used to unravel the complex interaction between nutrients, gene expression and physiology by systematically studying both the predator (worm) and the prey (bacteria). With it we can begin to answer important questions about how what we eat affects how we function.

The key to the study was a set of complimentary genetic screens performed on the transparent roundwormC. elegansand two kinds of bacteria that comprised the worms diet ComamonasandE. coli. In a pair of papers published last year, Walhout and colleagues described dramatic changes in gene expression between worms fed onlyComamonasand those fed onlyE. colibacteria. Linked to these genetic changes were profound physiological differences between the worms.Comamonas-fed worms developed faster and were less fertile than theirE. coli-fed counterparts.

By genetically dissecting the two bacteria and using a specialC. elegansstrain developed to sense changes to diet-related gene expression, Walhout and colleagues were able to zero in on a set of genes present inComamonasbut absent fromE. coli. Further testing confirmed that these genes were responsible for producing vitamin B12 inComamonasand it was the presence of the micronutrient that accounted for the genetic and physiological differences seen between the worms on different diets.

Importantly, Walhout found that vitamin B12 fulfills two important functions inC. elegans: It helps regulate development through the methionine/SAM cycle, which is needed for the production of cell membranes in new cells. It also alleviates potentially toxic buildups of the short-chain fatty acid propionic acid, which can alter gene expression or harm cells.

C. elegansfedE. coliare actually vitamin B12 deficient and this reflects only one natural state of the animal, said Walhout. BecauseE. colihas been the standard laboratory diet for decades it would be interesting to study other characteristics of the worm, such as behavior, mating and movement, on a vitamin B12 rich diet.

Walhout and colleagues say that this system can also be adapted to identify genetic and physiological changes caused by other micronutrients inC. elegans. With the proper human analogs, its possible that we could one day predict the precise interaction between diet, gene expression and physiology that occurs when we eat a carrot, hamburger, steak or any other food. Doing so might someday lead to new insights into a variety of conditions or diseases such as high cholesterol, heart disease, diabetes and obesity. It can also be used to explore the precise benefits of bacteria found in gut flora.

It turns out a single transgenic worm is a powerful tool for exploring the complex interaction between macro and micronutrients, gene expression and physiology, said Emma Watson, a doctoral student in the Walhout Lab and first author on theCellstudy.

Like Loading...

See the original post here:
B12 drives gene expression