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Scientists have identified a single-nucleotide variant in the GNAQ gene responsible for Sturge-Weber syndrome and port-wine stains.

Dr Anne Comi said, Now that we know the underlying genetic mutation responsible for both conditions, we’re hopeful that we can move quickly towards targeted therapies, offering families the promise of new treatments for the first time.

Scientists have found that a mutation in the gene encoding casein kinase Iδ (CKIδ) is associated with both the presence of migraine and advanced sleep phase. The resulting alterations (T44A and H46R) caused reduced enzyme activity.

Results of experiments on mice suggest that decreases in CKIδ activity can contribute to the development of migraine.

Genetic analysis of the H7N9 influenza virus shows that the HA gene might have originated from avian influenza viruses of duck origin, and the NA gene might have transferred from migratory birds infected with avian influenza viruses along the east Asian flyway.

The six internal genes of the H7N9 virus probably originated from two different groups of H9N2 avian influenza viruses, which were isolated from chickens.

Diversity among isolates implies that the H7N9 virus has evolved into at least two different lineages.

The large-scale Collaborative Oncological Gene-environment Study (COGS) has published over a dozen coordinated papers detailing the genetic and environmental bases of breast, ovarian, and prostate cancers.

The papers report over 70 new susceptibility loci for these 3 hormone-related cancers, and will help clarify the underlying mechanisms of carcinogenesis and develop clinically relevant cancer prediction models.

Almost half of the 70 known loci associated with overall breast cancer risk in women of European ancestry were also associated with risk in east Asian women. In addition, certain environmental factors, specifically alcohol consumption, seem to modify the association between some common variants and breast cancer risk.

A Sweden study has found a statistically significant monotonic association between advancing grandpaternal age at the time of birth of the parent and risk of autism in grandchildren.

Men who had fathered a daughter when they were 50 or older were 1.79 times more likely to have a grandchild with autism, while men who had fathered a son when they were 50 or older were 1.67 times more likely to have a grandchild with autism, compared with men who had fathered children when they were 20 to 24 years old.

The results are consistent with mutations or epigenetic alterations associated with advancing paternal age, but the overall risk remains low.

Scientists have mapped the genomes of four species of tapeworm, identifying new potential drug targets including some on which existing pharmaceuticals may act.

The genomes also offer insights into the evolution of parasitism. Tapeworms are distantly related to blood flukes and have metabolism that is finely tuned to rely on nutrients scavenged from their hosts.

Insufficient sleep and circadian rhythm disruption are associated with health problems including obesity, cardiovascular disease, and cognitive impairment. Analysis of blood RNA samples showed that after just one week, 711 genes are affected by insufficient sleep.

The affected genes were associated with circadian rhythms, sleep homeostasis, oxidative stress, and metabolism. Biological processes affected included chromatin modification, gene-expression regulation, macromolecular metabolism, and inflammatory, immune and stress responses.

Canadian scientists used new high-throughput gene sequencing technology to
characterize the gut microbiota of 24 healthy infants from the CHILD birth cohort.

DNA sequencing allowed bacteria that are difficult to culture to be included in the survey. There were significant differences in bacterial species between infants, especially those who were formula-fed or born by cesarean delivery. Although any antibiotic use was recorded for most patients, the small sample size made it difficult to investigate how antibiotics may have influenced the differences observed.

Meta-analyses by the CREAM identified multiple new genes associated with refractive error and myopia.

Up to 30% of Western populations and 80% of Asians are short sighted. The genome-wide meta-analyses included over 37000 people from 27 studies of European ancestry and over 8000 from 5 Asian cohorts. 16 mutations that may be responsible for myopia were identified, in genes with functions in neurotransmission, ion transport, retinoic acid metabolism, extracellular matrix remodelling, and eye development.

Researchers at the Cambridge Research Institute and University of Cambridge have found evidence for the formation of G-quadruplex structures in the genome of mammalian cells.

G-quadruplexes are capable of forming a four-stranded structure, unlike the normal two strands of DNA.

The experiments demonstrate that G-quadruplex structures are modulated during the cell cycle in a manner that is sensitive to whether or not the DNA is being replicated. It may be possible to develop drugs that trap the quadruplexes to stop cells dividing and prevent proliferation of cancer cells.

Earwax type and armpit odour are genetically determined by a single-nucleotide polymorphism (SNP) located in the ABCC11 gene. East Asians usually have a genotype that produces dry earwax and no axillary odour, while Europeans and Africans are more likely to have wet earwax and axillary osmidrosis.

Researchers at the University of Bristol found that deodorant use is influenced by genotype, however there were many people who used deodorant despite not producing armpit odour (77.8%) and some who did not despite being genetically predisposed to be odoriferous (4.7%).

People can be sensitive to deodorant chemicals which may trigger conditions such as asthma and eczema, so it is important that people do not expose themselves and their families to deodorants that are not necessary.

Scientists at Edinburgh’s Centre for Regenerative Medicine have found that the leprosy bacterium reprograms adult nerve cells to help spread the infection throughout the body.

The bacteria downregulate differentiation-associated genes in adult Schwann cells and upregulate genes of mesoderm development. The reprogrammed cells resemble stem cells and can transfer bacteria around the body, both by becoming new muscle cells and by causing the release of bacteria-laden macrophages.

As The Guardian reports, this research is of greater interest than simply understanding the disease because it may provide a way to create pluripotent stem cells without using a virus that can cause mutations.

British researchers found they could improve children’s asthma control by using drugs suited to their specific genome.

Long-acting β2 agonists are used as an alternative to increasing the dose of inhaled corticosteroids if a standard dose provides inadequate asthma control. However, LABAs are less effective in people with the Arg16 β2 receptor genotype, approximately 15% of the population.

The research found that children with the different gene who were given a LTRA instead of a LABA showed improved asthma control and missed fewer days of school.

Norovirus, the leading cause of infectious gastroenteritis (vomiting & diarrhoea), is currently showing increased activity in Australia, France, the Netherlands, New Zealand, Japan, and the UK.

Genetic analysis of the virus has shown that this has been caused by the emergence of a new strain of norovirus.

The new norovirus genotype II.4 variant, named Sydney 2012 after the place where it was first reported, is related to existing strains Apeldoorn 2007 and New Orleans 2009, but is different enough that there may be limited immunity in the population.

Researchers at King’s College London found that people who stop smoking are less anxious than those who remain addicted, contradicting the belief that smoking is a stress reliever.

The research did not address anxiety levels in people who want to continue smoking or those who do not smoke, as the study’s primary aim was customizing nicotine replacement therapy based on patients’ genetics.

NHS Choices published a useful analysis of the research.

If you smoke, stop.

Pandas’ innate immune systems produce an antimicrobial peptide that rapidly kills drug-resistant strains of bacteria.

Scientists at China’s Nanjing Agricultural University found the peptide, cathelicidin-AM, by mining the panda genome. The research showed that the synthesized peptide was effective against a wide spectrum of microorganisms. It killed bacteria by directly affecting the bacterial cell wall and membrane, and worked six times faster than existing antibiotic clindamycin.