Disease caused by reduction of most abundant cellular protein identified

December 8, 2017, University of Manchester
Credit: University of Manchester

An international team of scientists and doctors has identified a new disease that results in low levels of a common protein found inside our cells.

The study, led by Dr Siddharth Banka from The University of Manchester and the Manchester Centre for Genomic Medicine, St Mary's Hospital, is published in the reputed American Journal of Human Genetics.

β-actin is the cell's most abundant protein, providing shape and allowing them to move. It is fundamental to a number of biological functions.

The team say the new disease is caused by gene mutations which result in half of the normal β-actin levels.

Dr Sara Cuvertino, a Research Associate at The University of Manchester and first author of the paper, said: "β-actin is so vital to our cells that it was very surprising for me that patients could still survive on just half the normal levels of this ".

Dr Banka said, "Although patients born with these mutations have developmental delay, heart and kidney abnormalities, it is remarkable that several are leading a reasonably healthy life.

"Some affected individuals also have neurological problems such as epilepsy."

Dr Cuvertino studied the cells of patients affected with this new disease and found several subtle defects such as unusual shape, reduced capacity to move and divide.

"The β-actin of a worm is very similar to the . This remarkable conservation across millions of years of evolution reflects the importance of this for life," said Dr Cuvertino.

Dr Banka added "In our study we have described 33 patients, which is a large number for a first paper on a . I am sure that this discovery will lead to identification of more patients from across the world, who have not yet been diagnosed."

Dr Cuvertino said, "Our studies of patient cells have provided some very interesting clues to the underlying mechanism of the disease that may provide a foundation for developing treatments".

Dr Banka's group is now studying how reduction in β-actin causes the with a goal to develop possible treatments for these patients.

The doctors and scientists is unable to deal; with individual enquires from the public. However, should in the first instance contact their GP who may refer them on to a local geneticist.

Explore further: Devastating disease that changes brain size discovered

More information: Sara Cuvertino et al. ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder, The American Journal of Human Genetics (2017). DOI: 10.1016/j.ajhg.2017.11.006

Related Stories

Devastating disease that changes brain size discovered

September 7, 2017
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.

Scientists find promise in intervention to normalize biological functions in Fragile X mice

November 7, 2017
A team of neuroscientists have developed an intervention that normalizes multiple biological functions in mice afflicted with Fragile X Syndrome (FXS). Its breakthrough centers on protein synthesis, or the building of proteins, ...

New test for childhood genetic disorders 'transformational'

May 15, 2017
The gruelling way doctors are often forced to diagnose a group of rare genetic disorders in children could be transformed by a new test developed by The University of Manchester and Saint Mary's Hospital.

New syndrome causing obesity and intellectual disability identified

February 3, 2016
Scientists at The University of Manchester have discovered a rare new genetic syndrome of obesity, over-eating, mental and behavioural problems in six families, from across the world.

Recommended for you

Identifying Crohn's disease risk factors in the Ashkenazi Jewish population

May 25, 2018
It is estimated that one in three individuals of Ashkenazi Jewish (AJ) descent carry mutations that increase their risk for certain genetic diseases. For instance, Crohn's, a highly heritable inflammatory bowel disease, is ...

How do insects survive on a sugary diet?

May 25, 2018
There's a reason parents tell their kids to lay off the sugar: too much isn't good for you.

Regulatory mutations missed in standard genetic screening lead to congenital diseases

May 25, 2018
Researchers have identified a type of genetic aberration to be the cause of certain neurodevelopmental disorders and congenital diseases, such as autism and congenital heart disease, which are undetectable by conventional ...

New chromosome study can lead to personalised counselling of pregnant women

May 25, 2018
Foetuses with a so-called new balanced chromosomal aberration have a higher risk of developing brain disorders such as autism and mental retardation than previously anticipated. The risk is 20 per cent for foetuses with these ...

New findings on autism-related disorder

May 24, 2018
In a study published today in Nature, Marc Bühler and his group at the Friedrich Miescher Institute for Biomedical Research (FMI) have taken a major step forward in elucidating the mechanisms underlying a disorder known ...

Genome study presents new way to track historical demographics of US populations

May 24, 2018
Sharon Browning of the University of Washington and colleagues developed a method to estimate historical effective population size, which is the number of individuals who pass on their genes to the next generation, to reveal ...

0 comments

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.