Fragile X syndrome (FXS) is the most frequent cause of inherited intellectual retardation and is also related with other psychiatric and neurologic disorders. Scientists from the University of the Basque Country and the Achucarro neurosciences centre have discovered a promising new therapy for FXS which is based on modulation of endocannabinoid system in order to alleviate symptoms. This finding has been recently published in Nature Medicine. Read full text »

American scientists succeeded in developing gene therapy owing to which Parkinson’s disease symptoms recede. The new method reduces movement disorders such as bradykinesia, muscle stiffness and tremor at rest as proved by research published in “Lancet Neurology”. Read full text »

Glybera is the first drug authorized in Europe which is based on gene therapy. It is also known as the most expensive drug in the world – a therapy with the use of it is expected to cost about 1.2 million euros. The drug helps people suffering from familial lipoprotein lipase deficiency (LPLD) which a rare disease of lipid metabolism. In 2012 the European Commission authorized the drug and it will be available in 27 countries of the European Union in a few months (in the second half of 2013). Read full text »

Polish scientists from Medical Genetics Institute of Warsaw Medical University discovered that tendencies to certain reactions to alcohol are genetically conditioned and may lead to an increase in probability of suicidal attempts. Read full text »

MicroRNAs are proteins non-coding RNA molecules of about 20-24 nucleotides length. Their function is to control the expression of other genes during transcription or posttranscriptionally. Distinct expression of certain classes of microRNAs in various conditions were detected, including certain types of cancer. MicroRNAs class let-7 has a function in many metabolic pathways, and their goal is the inhibition of cell proliferation. They inhibit the growth of tumors. Reduction of miRNA let-7 class in some types of tumors, such as lung cancer and breast cancer, was detected. Another type of miRNAs that can be used in cancer therapy is the miR-34. The use of miRNAs in cancer diagnosis and therapy is promising but requires further study.

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Autism spectrum disorders (ASD) is used in medical terminology to describe developmental disorders which have characteristic symptoms: poor social interaction, communication difficulties and repetitive behaviours. Autism spectrum disorders include autism, Asperger syndrome, and pervasive developmental disorder not otherwise specified (PDD-NOS). It is estimated that the disease affects 1 per 1000 people and is four times more common among males than females. Currently, the disease is incurable and in order to mitigate its symptoms pharmacological and psychological treatment can be used.

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Obesity is linked with excessive accumulation of fat tissue and with adverse effects on health. Type 2 diabetes has become one of the main lifestyle diseases and is one of the most common problems in everyday medical practice. Worldwide, in every 10 seconds it is diagnosed in two individuals and one person dies because of its complications. Depression is linked with chronic and sustained despondence, low self-esteem and loss of ability to feel pleasure. Osteoporosis is a chronic metabolic disease, which is characterized with decrease of bone mass and changes in the bone microarchitecture, leading to increased risk of fractures.

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Surely everyone of us could think of at least one film or book story involving characters whose mind is taken over by a foreign creature, usually of an extraterrestrial origin. It turns out that fiction might not be that far from truth. Thanks to the article (1) published online in the open-access journal PlosOne, we learn that female brains harbor male DNA and probably male cells. The source and consequences of this fact have already been studied but so far no definite conclusion was reached. Read full text »

Breast cancer is one of the most common cancers in women. Since the 70th, until the 90th twentieth century, a steady increase in the incidence of breast cancer could be observed. A breast cancer is now the cause of more than 450 000 deaths per year. Researchers from The Cancer Genome Atlas mapped genetically over 800 samples from different patients with breast cancer. The results were published in the Nature, 23 September 2012. The study takes into account the type and number of mutations, miRNA correlation with mutations, DNA methylation, and the number and type of amplified genes. Integrated molecular analysis of breast cancer broadens our knowledge of the disease and points to genetic factors affecting the formation and progression of cancer. Read full text »

Vitamin E, which is commonly considered to have positive influence on reproduction, was subjected to analysis by Japanese scientists who stated that it reduces the bone mass. The results of their research were published in “Nature Magazine” in 2012. Read full text »