Recently, an international research team led by Tel Aviv University in Israel said that certain ingredients in green tea and red wine can prevent the formation of toxic metabolites, and it is expected to be used in the treatment of genetic metabolic diseases such as phenylketonuria in the future.
The team tested metabolites in genetic metabolic diseases such as phenylketonuria with polyphenolic active ingredients (EGCG) in green tea and tannins in red wine, which are involved in the formation of toxic amyloid. The results show that both EGCG and tannin can effectively block the formation of such proteins. “Unlike source treatment, the ingredients in green tea and red wine neutralize the detected bypass metabolites. If these ingredients are refined and turned into drugs, the prospects are worth looking forward to.†Deputy Director, Pediatrics, Beijing Friendship Hospital Physician Ding Yuxue explained to the Science and Technology Daily intern reporter.
Gene mutation causes protein structure change
In 1908, Archibald Garrod of the United Kingdom first proposed an inherited metabolic disease. The disease causes changes in the structure and function of protein molecules due to genetic mutations, leading to defects in enzymes, receptors or carriers, causing abnormalities in the biochemical reactions and metabolism of the body, and a large accumulation of reaction substrates or intermediate metabolites, causing a series of clinical manifestations. Such diseases include metabolic abnormalities in substances such as amino acids, organic acids, fatty acids, sugars, and hormones.
"The number of newborns in China is about 15 million to 25 million a year. The current total incidence of genetic metabolic diseases is about three thousandths. This is only the estimated data, and the incidence rate varies in different regions." Ding Yuxue said.
Before the 1980s, there was very little understanding of genetic metabolic diseases, and some strange names were hard to remember. In 1981, China began to screen for phenylketonuria, coupled with the application of tandem mass spectrometry and gas chromatography-mass spectrometry in China. Methylmalonic acidemia, maple syrup, and propionateemia were screened and diagnosis.
Guo Hongmei, Department of Gastroenterology, Nanjing Children's Hospital, Nanjing Medical University, pointed out that when encountering nervous system manifestations such as unexplained exercise, mental retardation, convulsions, or symptoms of multiple organ damage such as jaundice, vomiting, and feeding difficulties, consideration should be given. The possibility of genetic metabolic diseases. Ding Yuxue told reporters: "When the newborn has vomiting, diarrhea, anemia, refusal to eat and other non-specific symptoms of the digestive system or due to liver function and jaundice, increased transaminase and other symptoms. In addition to liver disease signs, early feeding difficulties, developmental delay, easy When nervous system symptoms such as irritability, convulsions, and coma are accompanied by severe internal environmental disorders, clinicians may consider whether to perform genetic metabolic disease screening. However, the overall incidence of genetic metabolic diseases is still very low, and most genetic metabolic diseases are Think it is a rare disease."
Genetic testing provides more disease information
Phenylketonuria is an autosomal recessive hereditary disease caused by congenital defects or mutations in the liver phenylalanine hydroxylase. It was first discovered by the Norwegian scientist Folen in 1934 and was named PKU in 1937. Due to the disorder of phenylalanine metabolism, patients cannot decompose the ingested phenylalanine into physiologically active substances such as tyrosine, which causes phenylalanine to accumulate in the patient and damage the brain. The bypass metabolite phenylpyruvate and the like are mostly excreted in the urine, resulting in tens or hundreds of times the metabolites in the urine of the patient are normal children. PKU clinical manifestations are mental retardation, autism, epilepsy and so on.
"Phenylketonuria and hypothyroidism, the two diseases have a higher incidence in genetic metabolic diseases, and the screening technique is simpler. After treatment, it can be well controlled, reducing poor prognosis and improving survival. Quality." Ding Yuxue explained. In May 2018, the National Health and Health Commission, the Ministry of Science and Technology and other five departments jointly issued a notice to include phenylketonuria in the first batch of national rare diseases.
It is reported that there are two conventional PKU screening methods: determining the concentration of phenylalanine and lysine in serum; and measuring the bypass metabolite of phenylalanine in urine. The former is the most commonly used tandem mass spectrometry, but the mass spectrometer is expensive and difficult to popularize. "Tandem mass spectrometry can detect hundreds of genetic metabolic diseases, but the more expensive screening projects, the higher the cost."
At present, PKU therapy mainly includes diet therapy, glycomacropeptide method, supplemental tetrahydrobiopterin method, and enzyme replacement therapy and gene therapy. Niu Ruiqing and others pointed out that the treatment of limiting phenylalanine intake combined with the new method has made great progress, but it is still a long way to go to study safe and effective treatment methods. Ding Yuxue believes that genetic testing is embarrassing compared to the previous single biological screening technology, which will have a subversive effect on the screening and treatment of genetic metabolic diseases. “A lot of genetic data can get more disease information, but the amount of data is too It will be very difficult to analyze it." (Intern reporter Dai Xiaopei)
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