A case of adrenomyeloneuropathy caused by a novel point mutation in the ABCD1 gene and functional verification
Adrenoleukodystrophy is a rare neurogenetic disease, and adrenomyeloneuropathy is the most common phenotype in adults. The clinical data of a patient with adrenoleukodystrophy and spinal-peripheral neuropathy caused by a novel point mutation in exon 4 of the ABCD1 gene (c.1256T > G (p.Val419G...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2024-09-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2024.1421122/full |
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| author | Xiaoxue Shi Xiaoxue Shi Xiaoxue Shi Xuelin Qi Xuelin Qi Jinhua Zheng Jinhua Zheng Jinhua Zheng Jianjun Ma Jianjun Ma Jianjun Ma Dongsheng Li Dongsheng Li Dongsheng Li |
| author_facet | Xiaoxue Shi Xiaoxue Shi Xiaoxue Shi Xuelin Qi Xuelin Qi Jinhua Zheng Jinhua Zheng Jinhua Zheng Jianjun Ma Jianjun Ma Jianjun Ma Dongsheng Li Dongsheng Li Dongsheng Li |
| author_sort | Xiaoxue Shi |
| collection | DOAJ |
| description | Adrenoleukodystrophy is a rare neurogenetic disease, and adrenomyeloneuropathy is the most common phenotype in adults. The clinical data of a patient with adrenoleukodystrophy and spinal-peripheral neuropathy caused by a novel point mutation in exon 4 of the ABCD1 gene (c.1256T > G (p.Val419Gly)) were retrospectively analyzed. Furthermore, we constructed wild-type and mutant vectors of the ABCD1 (NM0000334) gene to validate the effect of this mutation on the expression of the ABCD1 gene and protein and to explore the mechanism of X-linked adrenoleukodystrophy occurrence and development to identify therapeutic targets for clinical treatment. |
| format | Article |
| id | doaj-art-528eac6184f5441da0db1c7d8e9dd67b |
| institution | OA Journals |
| issn | 1664-8021 |
| language | English |
| publishDate | 2024-09-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj-art-528eac6184f5441da0db1c7d8e9dd67b2025-08-20T01:55:21ZengFrontiers Media S.A.Frontiers in Genetics1664-80212024-09-011510.3389/fgene.2024.14211221421122A case of adrenomyeloneuropathy caused by a novel point mutation in the ABCD1 gene and functional verificationXiaoxue Shi0Xiaoxue Shi1Xiaoxue Shi2Xuelin Qi3Xuelin Qi4Jinhua Zheng5Jinhua Zheng6Jinhua Zheng7Jianjun Ma8Jianjun Ma9Jianjun Ma10Dongsheng Li11Dongsheng Li12Dongsheng Li13Department of Neurology, Henan Provincial People’s Hospital, Zhengzhou, ChinaDepartment of Neurology, Zhengzhou University People’s Hospital, Zhengzhou, ChinaDepartment of Neurology, Henan University People’s Hospital, Zhengzhou, ChinaDepartment of Neurology, Henan Provincial People’s Hospital, Zhengzhou, ChinaDepartment of Neurology, Zhengzhou University People’s Hospital, Zhengzhou, ChinaDepartment of Neurology, Henan Provincial People’s Hospital, Zhengzhou, ChinaDepartment of Neurology, Zhengzhou University People’s Hospital, Zhengzhou, ChinaDepartment of Neurology, Henan University People’s Hospital, Zhengzhou, ChinaDepartment of Neurology, Henan Provincial People’s Hospital, Zhengzhou, ChinaDepartment of Neurology, Zhengzhou University People’s Hospital, Zhengzhou, ChinaDepartment of Neurology, Henan University People’s Hospital, Zhengzhou, ChinaDepartment of Neurology, Henan Provincial People’s Hospital, Zhengzhou, ChinaDepartment of Neurology, Zhengzhou University People’s Hospital, Zhengzhou, ChinaDepartment of Neurology, Henan University People’s Hospital, Zhengzhou, ChinaAdrenoleukodystrophy is a rare neurogenetic disease, and adrenomyeloneuropathy is the most common phenotype in adults. The clinical data of a patient with adrenoleukodystrophy and spinal-peripheral neuropathy caused by a novel point mutation in exon 4 of the ABCD1 gene (c.1256T > G (p.Val419Gly)) were retrospectively analyzed. Furthermore, we constructed wild-type and mutant vectors of the ABCD1 (NM0000334) gene to validate the effect of this mutation on the expression of the ABCD1 gene and protein and to explore the mechanism of X-linked adrenoleukodystrophy occurrence and development to identify therapeutic targets for clinical treatment.https://www.frontiersin.org/articles/10.3389/fgene.2024.1421122/fullABCD1 geneadrenomyeloneuropathy (AMN)point mutationgenetic analysisfunctional verification |
| spellingShingle | Xiaoxue Shi Xiaoxue Shi Xiaoxue Shi Xuelin Qi Xuelin Qi Jinhua Zheng Jinhua Zheng Jinhua Zheng Jianjun Ma Jianjun Ma Jianjun Ma Dongsheng Li Dongsheng Li Dongsheng Li A case of adrenomyeloneuropathy caused by a novel point mutation in the ABCD1 gene and functional verification Frontiers in Genetics ABCD1 gene adrenomyeloneuropathy (AMN) point mutation genetic analysis functional verification |
| title | A case of adrenomyeloneuropathy caused by a novel point mutation in the ABCD1 gene and functional verification |
| title_full | A case of adrenomyeloneuropathy caused by a novel point mutation in the ABCD1 gene and functional verification |
| title_fullStr | A case of adrenomyeloneuropathy caused by a novel point mutation in the ABCD1 gene and functional verification |
| title_full_unstemmed | A case of adrenomyeloneuropathy caused by a novel point mutation in the ABCD1 gene and functional verification |
| title_short | A case of adrenomyeloneuropathy caused by a novel point mutation in the ABCD1 gene and functional verification |
| title_sort | case of adrenomyeloneuropathy caused by a novel point mutation in the abcd1 gene and functional verification |
| topic | ABCD1 gene adrenomyeloneuropathy (AMN) point mutation genetic analysis functional verification |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2024.1421122/full |
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