PubMed · 14297441
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A GIROUD, M MARTINET. 1964. [CRYSTALLINE ABNORMALITIES].. https://pubmed.ncbi.nlm.nih.gov/14297441/
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Expansions of polyglutamine repeats are known to cause a variety of human neurodegenerative diseases. More recently, expansions of alanine tracts, particularly in transcription factor genes, have been shown to cause at least nine human conditions, including mental retardation and malformations of the brain, digits and other structures. Present knowledge suggests that alanine tract expansions generally, but not always, arise through unequal recombination as opposed to replication slippage, the most likely mechanism in other triplet repeat expansions. The function of alanine tracts is unknown but when alanine expansions occur in transcription factor genes, alanine tracts can result in either loss-of-function or gain of an abnormal function. Given the frequency of alanine tracts in proteins, it is likely that more alanine tract expansions will be discovered in disease genes.
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BACKGROUND AND OBJECTIVE: Since 1992, the recommendation on the ingestion of folic acid (FA) to prevent congenital defects has become general in developed countries. In this paper, we analyze such a situation in Spain in most recent years. PATIENTS AND METHOD: We used the information concerning mothers of infants selected as controls in the ECEMC database. These mothers make up a sample of pregnant women of the general population. We analyzed the evolution of the consumption of FA/calcic folinate (CF) by pregnant women over the last 22 years, considering the period of pregnancy during which this vitamin was taken and the dosage. RESULTS: The proportion of women who take FA/CF during the first trimester of pregnancy increased dramatically in the last 9 years, up to 80% in 2002. However, only about 9% took the vitamin before becoming pregnant. Moreover, many daily doses are much higher than those internationally recommended for the general population of women planning pregnancy. CONCLUSIONS: In our country, the use of FA/CF to prevent congenital defects is correct in a small part of the population of pregnant women. Therefore, it is necessary to continue disseminating appropriate guidelines not only among gynecologists but also among family and general practitioners and health professionals working at family planning centers. Thus, they can transmit to women the need of using FA/CF and the right way to do it.