Credit: University of Manchester
An international collaboration led by scientists and doctors from the UK, Netherlands and United States has identified a new genetic disease that affects the size of our brains and causes severe developmental problems.
While working on another project, Dr Siddharth Banka who is based at The University of Manchester and the Manchester Centre for Genomic Medicine, Saint Mary's Hospital, noticed three children with large or small brains, developmental delay and mutations in a gene called RAC1.
At that point, it was difficult to be sure if it was a true finding, because RAC1 has never before been linked to human disease. And mutations in no other single gene have previously shown this extent of variability in brain-size.
As part of a parallel project, Professor Han Brunner and Dr Margot Reijnders of the Radboud University in Nijmegen had gathered together four more children with mutations in the same gene and altered brain-sizes. Some of the affected children were also found to have epilepsy and heart defects.
Dr Tom Millard also from The University of Manchester then used mouse cells to show that mutations in RAC1 affect the shape of the cells. When Dr Maria Kousi and Professor Nicholas Katsanis of Duke University, North Carolina found a similar effect of RAC1 mutations in brain-size of zebrafish, the team had no doubt they had discovered something new.
The study is published in the American Journal of Human Genetics.
"Evolution has tinkered with thousands of genes over millions of years, to shape the human brain, an organ that is remarkably consistent in its appearance and size across billions of people," said Dr Banka.
He added: "However, occasionally a tiny little alteration in just one of these thousands of genes can have devastating effects, reflecting the fine balance of this complex genetic orchestra."
Dr Reijnders said: "Remarkably, evolution has hardly meddled with RAC1. In fact, the RAC1 of the humble roundworm is not very different from the RAC1 present in your and my cells.
"This astonishing conservation across eons indicates the fundamental role of RAC1 in life. Hence, in some ways it is not surprising that a small alteration in this gene is difficult for us to tolerate."
Professor Han Brunner added: "These findings open new doors to our understanding of the development of the brain.
"We suspect RAC1 plays an important role in other genetic diseases as well".
Dr Banka added: "We are sure that this discovery will lead to identification of more patients with RAC1 mutations, who have not yet been diagnosed.
"The next step for the scientists will be to use this knowledge to work out possible treatments for this disease and related conditions."
Part of the study was based on the genetic data from the Wellcome Trust Sanger Institute in Cambridge.
The doctors and scientists who took part in this study are unable to deal with individual clinical enquires from the public. However, patients and families should in the first instance contact their GP who may refer them on to a local geneticist.
Explore further: Rac1 protein critical for lung development
See the article here:
Devastating disease that changes brain size discovered - Medical Xpress
- Avera Medical Minute AMcK: Researching the human genome [Last Updated On: April 10th, 2014] [Originally Added On: April 10th, 2014]
- Artificial Reproductive Technology: Constructing a Dystopia [Last Updated On: April 10th, 2014] [Originally Added On: April 10th, 2014]
- Human genetics - Wikipedia, the free encyclopedia [Last Updated On: April 10th, 2014] [Originally Added On: April 10th, 2014]
- Wellcome Trust Centre for Human Genetics - Video [Last Updated On: April 10th, 2014] [Originally Added On: April 10th, 2014]
- Human Genetics Biology Project - Video [Last Updated On: April 10th, 2014] [Originally Added On: April 10th, 2014]
- Dame Bridget Ogilvie: Women in Science - Video [Last Updated On: April 15th, 2014] [Originally Added On: April 15th, 2014]
- Human Genetics | Buzzle.com [Last Updated On: April 16th, 2014] [Originally Added On: April 16th, 2014]
- Refining language for chromosomes [Last Updated On: April 17th, 2014] [Originally Added On: April 17th, 2014]
- Refining the language for chromosomes [Last Updated On: April 17th, 2014] [Originally Added On: April 17th, 2014]
- CU system resets health care with $63M personalized medicine division [Last Updated On: April 21st, 2014] [Originally Added On: April 21st, 2014]
- Human Genetics and Personalized Medicine, Dr. David Cox - Video [Last Updated On: April 21st, 2014] [Originally Added On: April 21st, 2014]
- Applying math to biology: Software identifies disease-causing mutations in undiagnosed illnesses [Last Updated On: April 22nd, 2014] [Originally Added On: April 22nd, 2014]
- Software Identifies Gene Mutations in 3 Undiagnosed Children [Last Updated On: April 22nd, 2014] [Originally Added On: April 22nd, 2014]
- International collaboration unravels novel mechanism for neurological disorder [Last Updated On: April 25th, 2014] [Originally Added On: April 25th, 2014]
- Mount Sinai Researchers Identify Genetic Alterations in Shared Biological Pathways as Major Risk Factor for Autism ... [Last Updated On: April 25th, 2014] [Originally Added On: April 25th, 2014]
- Dive into Human Genetics - Video [Last Updated On: April 26th, 2014] [Originally Added On: April 26th, 2014]
- A new syndrome caused by mutations in AHDC1 [Last Updated On: May 2nd, 2014] [Originally Added On: May 2nd, 2014]
- Exploring genetics behind Alzheimer's resiliency [Last Updated On: May 3rd, 2014] [Originally Added On: May 3rd, 2014]
- Human genetics - An Introduction to Genetic Analysis ... [Last Updated On: May 4th, 2014] [Originally Added On: May 4th, 2014]
- Human Genetics - Estrella Mountain Community College [Last Updated On: May 5th, 2014] [Originally Added On: May 5th, 2014]
- What Is Human Genetics: How Important Is It To Science Today? [Last Updated On: May 9th, 2014] [Originally Added On: May 9th, 2014]
- Human Genetics Project - Video [Last Updated On: May 9th, 2014] [Originally Added On: May 9th, 2014]
- Journal of Human Genetics - Nature [Last Updated On: May 16th, 2014] [Originally Added On: May 16th, 2014]
- CSHL Keynote: Dr. Peter Donnelly, Wellcome Trust Centre for Human Genetics - Video [Last Updated On: May 16th, 2014] [Originally Added On: May 16th, 2014]
- New genetic sequencing methods mean quicker, cheaper, and accurate embryo screening [Last Updated On: May 31st, 2014] [Originally Added On: May 31st, 2014]
- Researchers take a major step towards better diagnosis and treatment of osteoporosis [Last Updated On: May 31st, 2014] [Originally Added On: May 31st, 2014]
- Poor coverage of specific gene sets in exome sequencing gives cause for concern [Last Updated On: June 2nd, 2014] [Originally Added On: June 2nd, 2014]
- Osteoporosis: Genetic researchers take major step towards better diagnosis, treatment [Last Updated On: June 2nd, 2014] [Originally Added On: June 2nd, 2014]
- Deletions and duplications in the exome can help pinpoint cause of unexplained genetic diseases [Last Updated On: June 2nd, 2014] [Originally Added On: June 2nd, 2014]
- New genes involved in food preferences will revolutionize diets and improve health [Last Updated On: June 2nd, 2014] [Originally Added On: June 2nd, 2014]
- ESHG14 Update on Ion PII and Ion Chef from Andy Felton - Video [Last Updated On: June 4th, 2014] [Originally Added On: June 4th, 2014]
- Ancient Human-Chimp Link Pushed Back Millions of Years [Last Updated On: June 22nd, 2014] [Originally Added On: June 22nd, 2014]
- Chinakov Vs. The Hidden Ep 4: Lets Play Some Xbox - Video [Last Updated On: June 22nd, 2014] [Originally Added On: June 22nd, 2014]
- Reaction to the $1,000 Genome [Last Updated On: June 26th, 2014] [Originally Added On: June 26th, 2014]
- Tragicom Studios Movie Explores Link between the Technology Industry and the Rise in Autism with Futuristic Eugenics ... [Last Updated On: June 26th, 2014] [Originally Added On: June 26th, 2014]
- 09 Prof. Richard Gold, Esq. - Video [Last Updated On: June 29th, 2014] [Originally Added On: June 29th, 2014]
- John Maunsell Takes Helm of Neuroscience Institute at University of Chicago [Last Updated On: July 2nd, 2014] [Originally Added On: July 2nd, 2014]
- Illumina Expands in Europe on 3 NIPT Deals - Analyst Blog [Last Updated On: July 2nd, 2014] [Originally Added On: July 2nd, 2014]
- GHOST STORY (The Hidden) - Video [Last Updated On: July 6th, 2014] [Originally Added On: July 6th, 2014]
- HOW TO MOONSHINE (The Hidden) - Video [Last Updated On: July 9th, 2014] [Originally Added On: July 9th, 2014]
- Will Genomics Soon Explain the Human Brain Gain? [Last Updated On: July 11th, 2014] [Originally Added On: July 11th, 2014]
- WIGGLE WIGGLE WIGGLE (The Hidden) - Video [Last Updated On: July 11th, 2014] [Originally Added On: July 11th, 2014]
- The Hidden Source : Beta - 1 V.S.1 me Brah! - w/ Friend (Short footage) - Video [Last Updated On: July 18th, 2014] [Originally Added On: July 18th, 2014]
- Three parent babies banned from knowing 'second mothers' [Last Updated On: July 23rd, 2014] [Originally Added On: July 23rd, 2014]
- 2014 ASHG Annual Meeting Schedule Overview - Video [Last Updated On: July 24th, 2014] [Originally Added On: July 24th, 2014]
- Pinpointing genetic links to schizophrenia may open doors to better treatment [Last Updated On: July 26th, 2014] [Originally Added On: July 26th, 2014]
- Factoring in Mendel and Human Genetics - Video [Last Updated On: July 27th, 2014] [Originally Added On: July 27th, 2014]
- University of Maryland Schools of Dentistry and Medicine receive NIH grant [Last Updated On: July 29th, 2014] [Originally Added On: July 29th, 2014]
- Mosaicism: Study clarifies parents as source of new disease mutations [Last Updated On: July 31st, 2014] [Originally Added On: July 31st, 2014]
- Human Genetics and the Image of God - Video [Last Updated On: August 7th, 2014] [Originally Added On: August 7th, 2014]
- Bigfoot and yeti, as elusive as ever [Last Updated On: August 8th, 2014] [Originally Added On: August 8th, 2014]
- Fruit Flies Used To Unlock Mysteries Of Human Diabetes [Last Updated On: August 11th, 2014] [Originally Added On: August 11th, 2014]
- 23andMe Announces Agreement with Pfizer Inc. to Research Genetics of Ulcerative Colitis and Crohn's Disease [Last Updated On: August 12th, 2014] [Originally Added On: August 12th, 2014]
- Penn's Basser Research Center for BRCA Names BRCA1 Founder Mary-Claire King Winner of the 2014 Basser Global Prize [Last Updated On: August 12th, 2014] [Originally Added On: August 12th, 2014]
- Announcing Speakers at BioConference Live Genetics and Genomics 2014 [Last Updated On: August 19th, 2014] [Originally Added On: August 19th, 2014]
- MARC travel awards announced for: American Society of Human Genetics 2014 Annual Meeting [Last Updated On: August 28th, 2014] [Originally Added On: August 28th, 2014]
- Human Genetics - The Complexity of Living Cells Debunks Evolution. - Video [Last Updated On: September 1st, 2014] [Originally Added On: September 1st, 2014]
- ASHG and NHGRI award first genetics and education fellowship [Last Updated On: September 2nd, 2014] [Originally Added On: September 2nd, 2014]
- ASHG and NHGRI award genetics and public policy fellowship [Last Updated On: September 2nd, 2014] [Originally Added On: September 2nd, 2014]
- Mapping the DNA Sequence of Ashkenazi Jews [Last Updated On: September 10th, 2014] [Originally Added On: September 10th, 2014]
- Google Continues To Build Upon Its Life Sciences Ecosystem [Last Updated On: September 12th, 2014] [Originally Added On: September 12th, 2014]
- Scientists discover genetic link to autism, developmental disorders [Last Updated On: September 15th, 2014] [Originally Added On: September 15th, 2014]
- Scientists discover possible genetic link to autism, developmental disorders [Last Updated On: September 15th, 2014] [Originally Added On: September 15th, 2014]
- Human Genetics DNA and RNA.mp4 - Video [Last Updated On: September 18th, 2014] [Originally Added On: September 18th, 2014]
- Dogs, humans attack cancer together [Last Updated On: September 19th, 2014] [Originally Added On: September 19th, 2014]
- Cancer treatment for dogs could one day save humans [Last Updated On: September 19th, 2014] [Originally Added On: September 19th, 2014]
- Synthetic sperm protein raises the chance for successful in vitro fertilization [Last Updated On: September 30th, 2014] [Originally Added On: September 30th, 2014]
- Gene Interacts with Stress and Leads to Heart Disease in Some People [Last Updated On: October 1st, 2014] [Originally Added On: October 1st, 2014]
- ASHG Launches Scientific EventPilot Meeting App with 3,500 Offline Abstracts for the Largest Human Genetics Meeting ... [Last Updated On: October 1st, 2014] [Originally Added On: October 1st, 2014]
- Human genetics of malaria has uncovered some new clues about susceptibility to severe malaria - Video [Last Updated On: October 4th, 2014] [Originally Added On: October 4th, 2014]
- How Iceland's Genealogy Obsession Leads to Scientific Breakthroughs [Last Updated On: October 8th, 2014] [Originally Added On: October 8th, 2014]
- Dartmouth Researchers Develop Reproducibility Score for SNPs Associated with Human Disease in GWAS [Last Updated On: October 8th, 2014] [Originally Added On: October 8th, 2014]
- Researchers develop reproducibility score for SNPs associated with human disease in GWAS [Last Updated On: October 8th, 2014] [Originally Added On: October 8th, 2014]
- Moore Foundation Selects Matthew Stephens for Data-Driven-Discovery Grant [Last Updated On: October 9th, 2014] [Originally Added On: October 9th, 2014]
- Reproducibility score for SNPs associated with human disease in GWAS [Last Updated On: October 9th, 2014] [Originally Added On: October 9th, 2014]
- Multiple neurodevelopmental disorders have a common molecular cause [Last Updated On: October 9th, 2014] [Originally Added On: October 9th, 2014]
- Human Genetics Molecular Biology of Gene - Video [Last Updated On: October 10th, 2014] [Originally Added On: October 10th, 2014]
- Human genetics : gel electrophoresis - Video [Last Updated On: October 11th, 2014] [Originally Added On: October 11th, 2014]
- Giant gene banks take on disease [Last Updated On: October 14th, 2014] [Originally Added On: October 14th, 2014]
- Gene duplications associated with autism evolved recently in human history [Last Updated On: October 19th, 2014] [Originally Added On: October 19th, 2014]