Focal segmental glomerulosclerosis with a mutation in the mitochondrially encoded NADH dehydrogenase 5 gene: A case report
NADH dehydrogenase 5 (ND5) is one of 44 subunits composed of Complex I in mitochondrial respiratory chain. Therefore, a mitochondrially encoded ND5 (MT-ND5) gene mutation causes mitochondrial oxidative phosphorylation (OXPHOS) disorder, resulting in the development of mitochondrial diseases. Focal s...
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| Format: | Article |
| Language: | English |
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Elsevier
2023-06-01
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| Series: | Molecular Genetics and Metabolism Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426923000095 |
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| author | Tsukasa Naganuma Toshiyuki Imasawa Ikuo Nukui Masakiyo Wakasugi Hiroshi Kitamura Yukiko Yatsuka Yoshihito Kishita Yasushi Okazaki Kei Murayama Yoshimi Jinguji |
| author_facet | Tsukasa Naganuma Toshiyuki Imasawa Ikuo Nukui Masakiyo Wakasugi Hiroshi Kitamura Yukiko Yatsuka Yoshihito Kishita Yasushi Okazaki Kei Murayama Yoshimi Jinguji |
| author_sort | Tsukasa Naganuma |
| collection | DOAJ |
| description | NADH dehydrogenase 5 (ND5) is one of 44 subunits composed of Complex I in mitochondrial respiratory chain. Therefore, a mitochondrially encoded ND5 (MT-ND5) gene mutation causes mitochondrial oxidative phosphorylation (OXPHOS) disorder, resulting in the development of mitochondrial diseases. Focal segmental glomerulosclerosis (FSGS) which had podocytes filled with abnormal mitochondria is induced by mitochondrial diseases. An MT-ND5 mutation also causes FSGS. We herein report a Japanese woman who was found to have proteinuria and renal dysfunction in an annual health check-up at 29 years old. Because her proteinuria and renal dysfunction were persistent, she had a kidney biopsy at 33 years of age. The renal histology showed FSGS with podocytes filled with abnormal mitochondria. The podocytes also had foot process effacement and cytoplasmic vacuolization. In addition, the renal pathological findings showed granular swollen epithelial cells (GSECs) in tubular cells, age-inappropriately disarranged and irregularly sized vascular smooth muscle cells (AiDIVs), and red-coloured podocytes (ReCPos) by acidic dye. A genetic analysis using peripheral mononuclear blood cells and urine sediment cells detected the m.13513 G > A variant in the MT-ND5 gene. Therefore, this patient was diagnosed with FSGS due to an MT-ND5 gene mutation. Although this is not the first case report to show that an MT-ND5 gene mutation causes FSGS, this is the first to demonstrate podocyte injuries accompanied with accumulation of abnormal mitochondria in the cytoplasm. |
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| id | doaj.art-c0a79d67a82847a1aacfbee01fa1fc26 |
| institution | Directory Open Access Journal |
| issn | 2214-4269 |
| language | English |
| last_indexed | 2024-03-13T10:03:32Z |
| publishDate | 2023-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj.art-c0a79d67a82847a1aacfbee01fa1fc262023-05-23T04:21:47ZengElsevierMolecular Genetics and Metabolism Reports2214-42692023-06-0135100963Focal segmental glomerulosclerosis with a mutation in the mitochondrially encoded NADH dehydrogenase 5 gene: A case reportTsukasa Naganuma0Toshiyuki Imasawa1Ikuo Nukui2Masakiyo Wakasugi3Hiroshi Kitamura4Yukiko Yatsuka5Yoshihito Kishita6Yasushi Okazaki7Kei Murayama8Yoshimi Jinguji9Division of Nephrology, Department of Internal Medicine, Yamanashi Prefectural Central Hospital, 1-1-1 Fujimi, Kofu, Yamanashi 400-0027, JapanDepartment of Nephrology, National Hospital Organization Chiba-Higashi National Hospital, 673 Nitona-cho, Chuoh-ku, Chiba-city, Chiba 206-8712, Japan; Corresponding author.Division of Nephrology, Department of Internal Medicine, Yamanashi Prefectural Central Hospital, 1-1-1 Fujimi, Kofu, Yamanashi 400-0027, JapanDivision of Nephrology, Department of Internal Medicine, Yamanashi Prefectural Central Hospital, 1-1-1 Fujimi, Kofu, Yamanashi 400-0027, JapanDepartment of Clinical Pathology, National Hospital Organization Chiba-Higashi National Hospital, 673 Nitona-cho, Chuoh-ku, Chiba-city, Chiba 206-8712, JapanDiagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, 2-1-1, Hongo, Bunkyo-ku, Tokyo 113-8421, JapanDiagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, 2-1-1, Hongo, Bunkyo-ku, Tokyo 113-8421, Japan; Department of Life Science, Faculty of Science and Engineering, Kindai University, 3-4-1 Kowakae, Higashiosaka, Osaka 577-8502, JapanDiagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, 2-1-1, Hongo, Bunkyo-ku, Tokyo 113-8421, JapanCenter for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, 579-1, Heta-cho, Midori-ku, Chiba 266-0007, JapanDivision of Nephrology, Department of Internal Medicine, Yamanashi Prefectural Central Hospital, 1-1-1 Fujimi, Kofu, Yamanashi 400-0027, JapanNADH dehydrogenase 5 (ND5) is one of 44 subunits composed of Complex I in mitochondrial respiratory chain. Therefore, a mitochondrially encoded ND5 (MT-ND5) gene mutation causes mitochondrial oxidative phosphorylation (OXPHOS) disorder, resulting in the development of mitochondrial diseases. Focal segmental glomerulosclerosis (FSGS) which had podocytes filled with abnormal mitochondria is induced by mitochondrial diseases. An MT-ND5 mutation also causes FSGS. We herein report a Japanese woman who was found to have proteinuria and renal dysfunction in an annual health check-up at 29 years old. Because her proteinuria and renal dysfunction were persistent, she had a kidney biopsy at 33 years of age. The renal histology showed FSGS with podocytes filled with abnormal mitochondria. The podocytes also had foot process effacement and cytoplasmic vacuolization. In addition, the renal pathological findings showed granular swollen epithelial cells (GSECs) in tubular cells, age-inappropriately disarranged and irregularly sized vascular smooth muscle cells (AiDIVs), and red-coloured podocytes (ReCPos) by acidic dye. A genetic analysis using peripheral mononuclear blood cells and urine sediment cells detected the m.13513 G > A variant in the MT-ND5 gene. Therefore, this patient was diagnosed with FSGS due to an MT-ND5 gene mutation. Although this is not the first case report to show that an MT-ND5 gene mutation causes FSGS, this is the first to demonstrate podocyte injuries accompanied with accumulation of abnormal mitochondria in the cytoplasm.http://www.sciencedirect.com/science/article/pii/S2214426923000095Focal segmental glomerulosclerosisMitochondrial nephropathyNADH dehydrogenase 5PodocyteCase report |
| spellingShingle | Tsukasa Naganuma Toshiyuki Imasawa Ikuo Nukui Masakiyo Wakasugi Hiroshi Kitamura Yukiko Yatsuka Yoshihito Kishita Yasushi Okazaki Kei Murayama Yoshimi Jinguji Focal segmental glomerulosclerosis with a mutation in the mitochondrially encoded NADH dehydrogenase 5 gene: A case report Molecular Genetics and Metabolism Reports Focal segmental glomerulosclerosis Mitochondrial nephropathy NADH dehydrogenase 5 Podocyte Case report |
| title | Focal segmental glomerulosclerosis with a mutation in the mitochondrially encoded NADH dehydrogenase 5 gene: A case report |
| title_full | Focal segmental glomerulosclerosis with a mutation in the mitochondrially encoded NADH dehydrogenase 5 gene: A case report |
| title_fullStr | Focal segmental glomerulosclerosis with a mutation in the mitochondrially encoded NADH dehydrogenase 5 gene: A case report |
| title_full_unstemmed | Focal segmental glomerulosclerosis with a mutation in the mitochondrially encoded NADH dehydrogenase 5 gene: A case report |
| title_short | Focal segmental glomerulosclerosis with a mutation in the mitochondrially encoded NADH dehydrogenase 5 gene: A case report |
| title_sort | focal segmental glomerulosclerosis with a mutation in the mitochondrially encoded nadh dehydrogenase 5 gene a case report |
| topic | Focal segmental glomerulosclerosis Mitochondrial nephropathy NADH dehydrogenase 5 Podocyte Case report |
| url | http://www.sciencedirect.com/science/article/pii/S2214426923000095 |
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