Genetics & Molecular Biology

Some genetic diseases caused by an abnormal repeat in the DNA are known to become more severe with each new generation - this dreadful trait is called anticipation. Now a study by Portuguese researchers from Porto University has proved for the first time the existence of anticipation in diseases caused by a different type of errors that not a DNA repeat, in this case in the fatal neurodegenerative disorder Familial Amyloid Polyneuropathy (FAP). 

Chronic pain is an unknown issue with unknown causes and a subjective definition but some people clearly have it. Researchers recently analyzed 2,721 people, all taking prescription opioid pain medications, for genes COMT, DRD2, DRD1 and OPRK1. The participants also rated their perception of pain on a scale from zero to 10. People who rated their pain as zero were not included in the study.

Low pain perception was defined as a score of one, two or three; moderate pain perception was a score of four, five or six; and high pain perception was a score of seven, eight, nine or 10. 

9 percent of the participants had low pain perception, 46 percent had moderate pain perception and 45 percent had high pain perception.


In biology, anticipation is the term for genetic diseases caused by an abnormal repeat in DNA that becomes more severe with each new generation.

Now there is a twist. A study has found the existence of anticipation in diseases caused by different errors - not a DNA repeat - in fatal neurodegenerative disorder Familial Amyloid Polyneuropathy (FAP).

All organisms, from mammals to fungi, have daily cycles controlled by a tightly regulated internal clock called the circadian clock.

The circadian clock is influenced by exposure to light and dictates the wake-sleep cycle. At the cellular level, the clock is controlled by a complex network of genes and proteins that switch each other on and off based on cues from their environment and most genes involved in the regulation of the circadian clock have been characterized, but a key component was missing in mammals. 

In a new study, a team performed a genome-wide chromatin immunoprecipitation analysis for genes that were the target of BMAL1, a core clock component that binds to many other clock genes, regulating their transcription. 


Cardiovascular disease often causes the heart to work harder than usual, a condition that triggers the chronic buildup of cardiac pressure and the onset of heart failure.
A genetic study of brown bears (Ursus arctos) in Bulgarian mountain regions showed they originated in Carpathia. So how did they get to Bulgaria? It wasn't natural dispersal. 

Bulgarian and Romanian NGOs, the Frankfurt Zoological Society, and scientists of the Senckenberg Conservation Genetics Section in Frankfurt have found that a legend was probably true - the legend being that the former leader of the Romanian Communist Party, Nicolae Ceausescu, flew the bears to Bulgaria.
Some long non-coding RNAs can give rise to small proteins that have biological functions, according to a recent study that describes how researchers have used ribosome profiling to identify several hundred long non-coding RNAs that may give rise to small peptides.

“The gift that keeps on taking” someone called it. It starts with a little twitching that you think it will go away, but instead grows and soon your limbs shake, your balance and coordination lost. Parkinson’s disease (PD) affects almost 10 million people worldwide, but many more still undiagnosed until their symptoms emerge often years into the disease. It is also incurable.

The International Peanut Genome Initiative, a multinational group crop geneticists who have been working in tandem for the last several years, have successfully sequenced the genome of 
Arachis hypogaea
 - the peanut. 

Arachis hypogaea and also called groundnut and, of course, peanut, is important both commercially and nutritionally. While the oil- and protein-rich legume is seen as a cash crop in the developed world, it remains a valuable sustenance crop in developing nations. The new peanut genome sequence is available to researchers and plant breeders across the globe to aid in the breeding of more productive and more resilient peanut varieties. 


A new research report explains why people with a rare balding condition called "atrichia with papular lesions" lose their hair and it identifies a strategy for reversing this hair loss.

Specifically the report shows for the first time that the "human hairless gene" imparts an essential role in hair biology by regulating a subset of other hair genes. This newly discovered molecular function likely explains why mutations in the hairless gene contribute to the pathogenesis of atrichia with papular lesions.

In addition, this gene also has also been shown to function as a tumor suppressor gene in the skin, raising hope for developing new approaches in the treatment of skin disorders and/or some cancers.