Clinical and genetic analysis of essential hypertension with CYB gene m.15024G>A mutation
OBJECTIVES: To explore the role of mitochondrial CYB 15024G>A mutation in the development of essential hypertension.
METHODS: Mitochondrial genome sequences of hypertensive patients were obtained from previous studies. Clinical and genetic data of a hypertensive patient with mitochondrial CYB 15024G>A mutation and its pedigree were analyzed. Lymphocytes derived from patient and family members were transformed into immortalized lymphoblastoid cell lines, and the levels of adenosine triphosphate (ATP), mitochondrial membrane potential and intracellular reactive oxygen species (ROS) were detected.
RESULTS: The penetrance of this essential hypertension family was 42.9%, and the age of onset was 46-68 years old. Mitochondrial genome sequencing results showed that all maternal members carried a highly conserved mitochondrial CYB 15024G>A mutation. This mutation could affect the free energy of mitochondrial CYB for secondary and tertiary structure and protein folding, thereby changing its structural stability and the structure of the electron transfer function area around the mutation site. Compared with the control, the cell line carrying the mitochondrial CYB 15024G>A mutation showed significantly decreased levels of mitochondrial CYB, ATP and mitochondrial membrane potential, and increased levels of ROS (P<0.01).
CONCLUSIONS: Mitochondrial CYB 15024G>A mutation may affect the structure of respiratory chain subunits and mitochondrial function, leading to cell dysfunction, which suggests that the mutation may play a synergistic role in essential hypertension.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2023 |
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| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:52 |
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| Enthalten in: |
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences - 52(2023), 4 vom: 25. Aug., Seite 510-517 |
| Sprache: |
Englisch |
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| Weiterer Titel: |
携带CYB m.15024G>A突变的原发性高血压家系遗传学分析 |
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| Beteiligte Personen: |
He, Yunfan [VerfasserIn] |
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| Links: |
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| Themen: |
8L70Q75FXE |
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| Anmerkungen: |
Date Completed 31.08.2023 Date Revised 21.09.2023 published: Print Citation Status MEDLINE |
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| doi: |
10.3724/zdxbyxb-2023-0283 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM361418884 |
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| 100 | 1 | |a He, Yunfan |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Clinical and genetic analysis of essential hypertension with CYB gene m.15024G>A mutation |
| 246 | 3 | 3 | |a 携带CYB m.15024G>A突变的原发性高血压家系遗传学分析 |
| 264 | 1 | |c 2023 | |
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| 500 | |a Date Completed 31.08.2023 | ||
| 500 | |a Date Revised 21.09.2023 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a OBJECTIVES: To explore the role of mitochondrial CYB 15024G>A mutation in the development of essential hypertension | ||
| 520 | |a METHODS: Mitochondrial genome sequences of hypertensive patients were obtained from previous studies. Clinical and genetic data of a hypertensive patient with mitochondrial CYB 15024G>A mutation and its pedigree were analyzed. Lymphocytes derived from patient and family members were transformed into immortalized lymphoblastoid cell lines, and the levels of adenosine triphosphate (ATP), mitochondrial membrane potential and intracellular reactive oxygen species (ROS) were detected | ||
| 520 | |a RESULTS: The penetrance of this essential hypertension family was 42.9%, and the age of onset was 46-68 years old. Mitochondrial genome sequencing results showed that all maternal members carried a highly conserved mitochondrial CYB 15024G>A mutation. This mutation could affect the free energy of mitochondrial CYB for secondary and tertiary structure and protein folding, thereby changing its structural stability and the structure of the electron transfer function area around the mutation site. Compared with the control, the cell line carrying the mitochondrial CYB 15024G>A mutation showed significantly decreased levels of mitochondrial CYB, ATP and mitochondrial membrane potential, and increased levels of ROS (P<0.01) | ||
| 520 | |a CONCLUSIONS: Mitochondrial CYB 15024G>A mutation may affect the structure of respiratory chain subunits and mitochondrial function, leading to cell dysfunction, which suggests that the mutation may play a synergistic role in essential hypertension | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Essential hypertension | |
| 650 | 4 | |a Gene mutation | |
| 650 | 4 | |a Maternal inheritance | |
| 650 | 4 | |a Mitochondrial DNA | |
| 650 | 4 | |a Mitochondrial dysfunction | |
| 650 | 4 | |a Respiratory chain | |
| 650 | 7 | |a Reactive Oxygen Species |2 NLM | |
| 650 | 7 | |a Adenosine Triphosphate |2 NLM | |
| 650 | 7 | |a 8L70Q75FXE |2 NLM | |
| 700 | 1 | |a Li, Wenxu |e verfasserin |4 aut | |
| 700 | 1 | |a Liu, Zhen |e verfasserin |4 aut | |
| 700 | 1 | |a Zhang, Juanjuan |e verfasserin |4 aut | |
| 700 | 1 | |a Guan, Minxin |e verfasserin |4 aut | |
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