Gene flaw causes small brain - scientists

October 3, 2010

Microcephaly, a disorder which leads to an abnormally small brain, has been traced in part to a flaw in a gene called WDR62 that plays a key role in the development of neurons, according to studies published on Sunday by the journal Nature Genetics.

Microcephaly, signalled by a small head and receding forehead, can be extremely disabling, handicapping speech and motor functions. There is no cure.

The WDR62 abnormality is one of a range of suspected to microcephaly. The condition also has environmental causes, including foetal exposure to alcohol, drugs and viruses such as chicken pox and German measles.

The studies are headed by C. Geoffrey Woods at Cambridge University and Christopher Walsh at the Boston Children's Hospital in Massachusetts.

Working separately, they spotted the WDR62 flaw by looking at the genomes of families with a history of microcephaly and by examining human and mouse embryonic cells in the lab.

Related Stories

Recommended for you

Genome editing enhances T-cells for cancer immunotherapy

November 20, 2017
Researchers at Cardiff University have found a way to boost the cancer-destroying ability of the immune system's T-cells, offering new hope in the fight against a wide range of cancers.

A math concept from the engineering world points to a way of making massive transcriptome studies more efficient

November 17, 2017
To most people, data compression refers to shrinking existing data—say from a song or picture's raw digital recording—by removing some data, but not so much as to render it unrecognizable (think MP3 or JPEG files). Now, ...

US scientists try first gene editing in the body

November 15, 2017
Scientists for the first time have tried editing a gene inside the body in a bold attempt to permanently change a person's DNA to try to cure a disease.

Genetic mutation in extended Amish family in Indiana protects against aging and increases longevity (Update)

November 15, 2017
The first genetic mutation that appears to protect against multiple aspects of biological aging in humans has been discovered in an extended family of Old Order Amish living in the vicinity of Berne, Indiana, report Northwestern ...

Genetic variant prompts cells to store fat, fueling obesity

November 13, 2017
Obesity is often attributed to a simple equation: People are eating too much and exercising too little. But evidence is growing that at least some of the weight gain that plagues modern humans is predetermined. New research ...

Discovering a protein's role in gene expression

November 10, 2017
Northwestern Medicine scientists have discovered that a protein called BRWD2/PHIP binds to histone lysine 4 (H3K4) methylation—a key molecular event that influences gene expression—and demonstrated that it does so via ...

4 comments

Adjust slider to filter visible comments by rank

Display comments: newest first

desotojohn
1 / 5 (2) Oct 03, 2010
Is it possible to test the remains of the Hobbit for this genetic flaw? Does any of the presumably modern relatives that live in the area have the flaw?
Quantum_Conundrum
1 / 5 (9) Oct 03, 2010
Democrats and atheists should be tested for this flaw immediately.
Birthmark
5 / 5 (2) Oct 03, 2010
May there be a possibility of tapping into this and increases the neurons in the brain? If so when can sign up :D
knikiy
1 / 5 (2) Oct 03, 2010
Democrats and atheists should be tested for this flaw immediately.

Also potatoes and tomatoes.

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.