The molecular basis of touch sensation: New function of a well-known gene identified

February 21, 2012

A gene known to control lens development in mice and humans is also crucial for the development of neurons responsible for mechanosensory function, as neurobiologists of the Max Delbrück Center for Molecular Medicine (MDC) Berlin-Buch have now discovered.

They found that in mice in which they had removed the c-Maf gene in the nerve cells, touch sensation is impaired. This similarly applies to human carriers of a mutant c-Maf gene. People with such a mutation suffer already at a young age from cataracts, a clouding of the lens which typically affects the elderly. The patients, as demonstrated by Professor Carmen Birchmeier and Dr. Hagen Wende in collaboration with Professor Gary Lewin and Dr. Stefan Lechner, have difficulty holding objects such as a sheet of paper as a consequence of this mutation.

Professor Birchmeier, a developmental biologist, commented on the findings of her research group: "c-Maf is an important gene for the development of the peripheral nerve cells." The gene controls the development of neurons that detect touch, the mechanosensory neurons. Previously, c-Maf was known as a key regulator of lens development.

Furthermore, the gene is also active in the dorsal root ganglia, an aggregate of nerve cells next to the spinal cord in which the cell bodies of mechanosensory neurons are localized. The form long axons, which terminate in the skin in touch corpuscles or at hair shafts. These axons detect mechanical stimuli, which in turn are converted into electrical signals and transmitted to the brain. When you stroke your fingers over a surface, its structure triggers high-frequency vibrations in the finger, to which specific touch receptors, the Pacinian corpuscles, respond.

In mice with deactivated c-Maf gene only few Pacinian corpuscles are formed, and moreover these few are not intact. The mice are therefore unable to recognize high-frequency vibrations. The same is true for a Swiss family with an inherited mutant c-Maf gene. The consequence is that the affected patients develop cataracts at an early age and have an impaired sense of touch.

Explore further: People with DFNA2 hearing loss show increased touch sensitivity

More information: Science Express, 16 February 2012. DOI:10.1126/science.1214314

Related Stories

People with DFNA2 hearing loss show increased touch sensitivity

December 9, 2011
People with a certain form of inherited hearing loss have increased sensitivity to low frequency vibration, according to a study by Professor Thomas Jentsch of the Leibniz-Institut für Molekulare Pharmakologie (FMP)/Max ...

New research on gene mutation responsible for deafness shows it also causes heightened skin sensitivity

November 21, 2011
(Medical Xpress) -- Researchers have known since 1997 that mutations in the KCQN4 channel (a pathway that leads from the external environment to neurons) lead to progressive deafness and that the KCQN4 channel is only found ...

How skin is wired for touch

December 22, 2011
Compared to our other senses, scientists don't know much about how our skin is wired for the sensation of touch. Now, research reported in the December 23rd issue of the journal Cell provides the first picture of how specialized ...

Recommended for you

Genome analysis with near-complete privacy possible, say researchers

August 17, 2017
It is now possible to scour complete human genomes for the presence of disease-associated genes without revealing any genetic information not directly associated with the inquiry, say Stanford University researchers.

Science Says: DNA test results may not change health habits

August 17, 2017
If you learned your DNA made you more susceptible to getting a disease, wouldn't you work to stay healthy?

Genetic variants found to play key role in human immune system

August 16, 2017
It is widely recognized that people respond differently to infections. This can partially be explained by genetics, shows a new study published today in Nature Communications by an international collaboration of researchers ...

Phenotype varies for presumed pathogenic variants in KCNB1

August 16, 2017
(HealthDay)—De novo KCNB1 missense and loss-of-function variants are associated with neurodevelopmental disorders, with or without seizures, according to a study published online Aug. 14 in JAMA Neurology.

Active non-coding DNA might help pinpoint genetic risk for psychiatric disorders

August 16, 2017
Northwestern Medicine scientists have demonstrated a new method of analyzing non-coding regions of DNA in neurons, which may help to pinpoint which genetic variants are most important to the development of schizophrenia and ...

Evolved masculine and feminine behaviors can be inherited from social environment

August 15, 2017
The different ways men and women behave, passed down from generation to generation, can be inherited from our social environment - not just from genes, experts have suggested.

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.