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Aurora magazine

The blog about the prenatal genetic of latest generation

The maternal intestinal microbiota influences fetal metabolism

Short chain fatty acids from the microbiota suppress insulin signals, reducing fat deposits. According to a study published in Science, the phenomenon could also affect fetal development. Indeed, some experiments show that acids can cross the placenta, passing from the maternal microbiota to the fetal environment. They could therefore regulate insulin levels and also affect the development of the baby's metabolism.

In recent years, the intestinal microbiota has been undergoing attacks both from the massive use of antibiotics and from the low-fiber diet. The lack of a healthy and functional microbiota exposes to various diseases, most of which are metabolic. The authors of the study then analyzed the effects in pregnancy, to verify whether they involved only the mother or even the fetus.

The researchers divided pregnant guinea pigs into two groups: half spent gestation in an environment free of a specific pathogen, half in a germ-free environment. The small ones in the second group were much more prone to develop metabolic problems. Later, they repeated the experiment; this time, the guinea pigs of the second group ate few fibers throughout the gestation. Again, the little ones experienced the same problem.

According to the researchers, the short chain fatty acids of the gut microbiota pass from the mother to the fetus. When the microbiota is deficient, the embryo receives less fatty acids. The deficit affects the development of the baby's metabolic system, thus making it more vulnerable to future obesity problems.


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New model for X-linked adrenoleukodystrophy found

An IDIBELL Neurometabolic Diseases team has identified a new model for X-linked adrenoleukodystrophy, also called X-ALD. The models in question are the Caenorhabditis elegans or C. elegans, worms about 1 millimeter long with a very simple organism. This will facilitate the study of the disease, for which there are no treatments at the moment.

X-ALD is a rare genetic disorder that affects the nervous system. Until now, the study of the disease has been complicated: there were no effective models that would allow the study of possible pharmacological targets. The job in question could change things.

Researchers believe that C. elegans is a perfect model for the disease. The worms in question may indeed suffer from a similar version of human disease, characterized by the deficit of the ALDP protein. This makes it possible to study the effects of this deficit in a controlled environment and, above all, to find a way to counter them.

The first results are encouraging: Dr. Esther Dalfó reports the discoveries made to date. The tests done on C elegans suggest that the neurological alterations typical of the disease are caused by the cells of the glia. The oxidative stress caused by the mitochondria would damage the cells in question, leaving the nerve tissues exposed. This would lead to the damage found in those suffering from the disease. The next step will be to understand how to stop the process.

There are several branches of medical research that make use of C. elegans. These worms are small and simple, despite having characteristics similar to those of much more complex animals. In addition, 40% of their genome is homologous to ours.


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X-linked adrenoleukodystrophy: what it is and how it occurs

X-linked adrenoleukodystrophy, also called X-ALD, is a degenerative genetic disease. People who suffer from it undergo progressive deterioration of the nervous system and endocrine glands. There are three types with different symptoms and age of appearance, all united by the gradual destruction of myelin.

X-ALD is caused by a mutation in the ABCD1 gene, which is found on the X chromosome. The gene codes for the ALDP protein, which is used to eliminate long and very long-chain saturated fatty acids. When the protein levels are too low, the acids build up and damage the glial cells.

The process is still unclear today, but the results are evident: the cells no longer produce myelin, leaving the nerves uncovered. This causes an immune response, resulting in demyelination. The process therefore feeds itself and is impossible to stop, at least with the tools available.

Symptoms vary by variant type and result in three versions of the disease.

  • X-linked brain adrenoleukodystrophy (X-CALD), the most common and severe form. It occurs between 3 and 12 years with reduced adrenal activity, learning difficulties, convulsions. The disease leads to the neurovegetative state in the terminal phase.
  • Adrenomyeloneuropathy (AMN), form with adult onset. Between 20 and 30 years, limb stiffness, hand pain, weakness occur. Again, it flows into the vegetative state.
  • Adrenoleukodystrophy with isolated adrenal cortic insufficiency (AI), affecting 70% of males with X-ALD. In 10% of cases, the only symptom remains. In others, it is the debut sign for the disease.

The diagnosis of the disease takes place starting from clinical observation, followed by an examination of VLCFA levels and magnetic resonance imaging. The genetic test for the ABCD1 gene confirms the diagnosis and also acts as an antenatal diagnosis.


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What time do you wake up? The genes decide it

For years they have told us the same story: whoever wakes up late is a lazy person, does not have enough willpower. Reality is much more complex. Research conducted by the University of San Francisco shows that genes decide - at least in part - what time we wake up. The habit of getting up at 5 in the morning could therefore depend on our DNA.

The study authors analyzed the data and DNA of 2,422 volunteers. The participants are all under 30 years old and usually wake up between 3 and 5 in the morning. Among their relatives, there is at least one with similar habits. This last detail confirms the idea that it is behavior dictated by genes, rather than habit.

According to the study, the time we get up depends largely on our membership chronotype. About one in 300 people have what causes them to wake up very early, while others are prone to get up later. Each chronotype is determined by different genetic variants, which determine the relationship between sleep and wakefulness. In some cases, the chronotype is similar in all family members. Much more often, it also changes within the same family.

The most interesting discovery, however, does not concern the times of our alarm clock. Genetically morning people could be at an advantage, at least on a social level. Those who wake up early are better off in the studio, more successful at work and more proactive. According to the researchers, it could be due to early exposure to sunlight, which stimulates the metabolism and improves mood.


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