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Ultime notizie dal mondo della genetica


Hereditary spastic paraparesis: what it is and how it occurs

Hereditary spastic paraparesis, also called hereditary spastic paraplegia, is a group of neurodegenerative genetic diseases. They mainly affect spinal cord and cerebellum, causing loss of control of the lower limbs. However, the group is very heterogeneous, both from a genetic and a clinical point of view.

Since 1883 - the year of the first description of the disease - to date, more than 60 genes have been identified linked to the onset of hereditary spastic paraparesis. Depending on the genes involved, the way in which the disease is transmitted also changes, which can be:

  • autosomal dominant. A copy is enough for it to manifest;
  • autosomal recessive. The variant must be inherited from both parents, so that it manifests itself;
  • recessive linked to the X chromosome, so it occurs only in males and females are healthy carriers;
  • sporadic genetic mutations, ie not inherited from either parent.

It is estimated that hereditary spastic paraparesis affects about 1.27 people per 100,000. The main forms are two. The pure form is manifested by progressive spasticity and weakness of the lower limbs. In the complex form are added disorders of the central and peripheral nervous system. In both cases, the evolution and severity of symptoms vary from patient to patient.

The diagnosis is mainly based on clinical observations and neurological tests. The genetic test serves mainly as confirmation, or in the case where there are other cases in the family. Unfortunately, at the moment there is no definitive cure.

Source: osservatoriomalattierare.it

Does drinking coffee in pregnancy hurt?

There is a large number of studies that prove coffee damage during pregnancy. A new work takes up all the previous studies on the subject, so as to identify any nuances that have gone unnoticed. Thanks to this procedure, some slightly different answers emerged from the previous ones.

The researchers used data from around 12 individual studies. A 2015 study showed that taking even small amounts of caffeine increases the risk of miscarriage. By contrast, more recent studies from 2016 to 2017 denied this possibility. This last thesis was also demonstrated by a series of experimental studies conducted among women who drank coffee during pregnancy.

The most recent data would seem to show that little caffeine does not increase the risk of miscarriage. They also show that taking so much caffeine damages fetal development. Children exposed to high levels of caffeine tend to weigh less at birth, with all the associated risks. It therefore seems obvious that coffee remains a potentially harmful beverage during pregnancy.

According to the World Health Organization, a pregnant woman should drink a maximum of two cups of coffee a day. However, it would be better to stay at even lower levels, given that certain types of coffee are richer in caffeine than others. The two canonical cups could therefore be too much, despite the good intentions of the future mother. Realistically speaking, the new study changes relatively little.

The best thing for a future mother is to avoid as much coffee as possible. A cup every so often after lunch, however, seems to be quite safe, which takes away a concern from many drink lovers.

Source: theguardian.com

How the genetic test for Fabry disease works

Fabry disease is a rare genetic disorder caused by the accumulation of globotriaosylceramide (Gb3). Man man that these adipose molecules accumulate inside the cells, damage them and cause their death. In the long run, they can cause chronic pain, kidney disease and stroke.

The primary cause of the accumulations is an anomaly inside the GLA gene, which carries the necessary instructions for the enzyme that processes the Gb3 molecules. When the enzyme is missing, the process stops and the symptoms of the disease appear. Depending on the type of mutation, the enzyme may be present in very small amounts or none at all. This results in greater and lesser severity of Fabry's disease.

The GLA gene is found on the X chromosome, which is why women are less affected by the disease: a healthy copy is enough to suppress the effects of the sick one. Men cannot rely on this mechanism and therefore get sick much more. If they show suspicious symptoms, it is better to use specific tests.

The first analyzes serve to assess the levels of the enzyme in the blood. If they are very low, genetic testing is used to look for GLA abnormalities. This in men. In women, blood tests are often normal: in the case of sick close relatives, the safest route is genetic testing. If successful, the prenatal test should also be considered. If one of the couple's members has close relatives with Fabry's disease, he may be a healthy carrier. In this case, there are two ways: the prenatal genetic test; in vitro fertilization with pre-implantation test.

Source: fabrydiseasenews.com

Does anemia in pregnancy increase the risk of developmental disorders?

There could be a link between anemia in pregnancy and disturbances in fetal development. This was discovered by the team of Dr. Renee Gardner, who examined the data of over half a million children born in Sweden. According to the researchers, anemia before the 30th week of gestation could be linked to intellectual disability, attention deficit, even autism. However, a cause-effect link between the two has not been demonstrated.

The team analyzed data from people born between 1984 and 2011, residing in Stockholm between 2001 and 2011. Scientists focused on rates of neurological development disorders. In particular, they compared rates between children born from anemic women and those born with normal iron levels. In anemic women in the early stages of pregnancy, the rate of autistic children was 4.9%. In non-anemic ones, however, it was 3.5%. In the case of attention deficit disorders, the difference was even more pronounced.

Anemia in early pregnancy was linked to a rate of 9.3% of the disease. In the absence of anemia, the reported rate was 7.1%. Similar results also with regard to intellectual disability: 3.1% against the average 1.3%. Iron plays an essential role in the development of the nervous system. It serves to form new connections between neurons, as well as to create the coating that protects them.

This could explain why iron deficiency at crucial stages of development is linked to disorders of neurological development. However, there is nothing to be afraid of: anemia before the 30th week of gestation is quite rare. That after the 30th week, much more common, seems to be unrelated to such problems.

Source: quotidianosanita.it

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