Professor Guan Minxin, who was hired as the dean of the College of Life Sciences at Zhejiang University earlier this year, has long been engaged in the research of mitochondrial genetics and the pathogenic mechanism of maternal genetic diseases. He is a well-known international expert in this field. Recently, his research team cooperated with Fudan University and other research institutions and discovered that there is a mitochondrial gene mutation related to non-syndromic deafness in a Han family in mainland China, which provides a new theory for early diagnosis, prevention and treatment of deafness. The research results were published in the journal J Med Genet (IF: 7.037) of the British Medical Association.
Deafness is a common disease that seriously affects the quality of life and communication. It can be caused by a single gene mutation or a compound mutation of different genes, or it can be caused by environmental factors, or a combination of genes and the environment. 50% of childhood deafness is considered to be related to genetic factors, and 70% of hereditary deafness is manifested as non-syndromic deafness (ie, no other symptoms and signs other than deafness). At present, many recessive and dominant genes related to non-syndromic deafness have been found, and these genes exist in a large number of deafness mutation sites. Understanding these specific gene information is important for large-scale deafness gene screening and diagnosis. significance.
In this article, the researchers found that the 12201T> C mutation of the mitochondrial tRNAHis gene may be related to non-syndromic deafness in a Han family in mainland China through clinical and laboratory research.
Research team members found that the family's deafness has typical maternal genetic characteristics. In this family of 5 generations of grandchildren, the average age of onset is 29 years old. This part of the patient's mitochondrial genome tRNAHis12201T> C was mutated, causing defects in the function of the mitochondrial respiratory chain, and eventually causing deafness. This research result provides a new theoretical basis for the early diagnosis, prevention and treatment of deafness.
Professor Guan Minxin â€™s research group also discovered that genetic mitochondrial function defects are related to hypertension for the first time in the world this year, thus explaining the pathogenesis of maternal genetic hypertension and providing a new theoretical basis for the early diagnosis, intervention and prevention of hypertension . The research results are published in "Circulation Research".
This question group conducted a general survey of a family of essential hypertension from Hongdong County, Shanxi Province, and found the typical maternal genetic characteristics: In this large family of 108 people from 5 generations of grandchildren, 27 of them originated from the same maternal ancestor. Fifteen of the maternal relatives had blood pressure higher than 140/90 mm Hg, while only 7 out of 81 non-maternal members had hypertension. Further studies have shown that the mitochondrial genome of this part of the patient has been mutated, resulting in defects in the function of the mitochondrial respiratory chain, insufficient energy supply, and elevated levels of oxygen free radicals, leading to hypertension.
The researchers discovered the pathogenic mechanism of essential hypertension caused by maternal mitochondrial gene defects. This is the first time in the world that genetic mitochondrial functional defects are associated with hypertension, which explains the pathogenesis of maternal genetic hypertension and provides a new theoretical basis for the early diagnosis, intervention and prevention of hypertension.
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