| Residential College | false |
| Status | 即將出版Forthcoming |
| Variability in SOD1-associated amyotrophic lateral sclerosis: geographic patterns, clinical heterogeneity, molecular alterations, and therapeutic implications | |
| Huang, Miaodan1; Liu, Yong U.2; Yao, Xiaoli3; Qin, Dajiang4; Su, Huanxing1 | |
| 2024-12-01 | |
| Source Publication | Translational Neurodegeneration
 |
| Volume | 13Issue:1 |
| Abstract | Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by progressive loss of motor neurons, resulting in global health burden and limited post-diagnosis life expectancy. Although primarily sporadic, familial ALS (fALS) cases suggest a genetic basis. This review focuses on SOD1, the first gene found to be associated with fALS, which has been more recently confirmed by genome sequencing. While informative, databases such as ALSoD and STRENGTH exhibit regional biases. Through a systematic global examination of SOD1 mutations from 1993 to 2023, we found different geographic distributions and clinical presentations. Even though different SOD1 variants are expressed at different protein levels and have different half-lives and dismutase activities, these alterations lead to loss of function that is not consistently correlated with disease severity. Gain of function of toxic aggregates of SOD1 resulting from mutated SOD1 has emerged as one of the key contributors to ALS. Therapeutic interventions specifically targeting toxic gain of function of mutant SOD1, including RNA interference and antibodies, show promise, but a cure remains elusive. This review provides a comprehensive perspective on SOD1-associated ALS and describes molecular features and the complex genetic landscape of SOD1, highlighting its importance in determining diverse clinical manifestations observed in ALS patients and emphasizing the need for personalized therapeutic strategies. |
| Keyword | Amyotrophic lateral sclerosis Genetic therapy Genotype Geographic pattern SOD1 variants |
| DOI | 10.1186/s40035-024-00416-x |
| URL | View the original |
| Language | 英語English |
| Scopus ID | 2-s2.0-85195155796 |
| Fulltext Access | |
| Citation statistics | |
| Document Type | Journal article |
| Collection | University of Macau |
| Affiliation | 1.State Key Laboratory of Quality Research in Chinese Medicine, Institute of Chinese Medical Sciences, Department of Pharmaceutical Sciences, Faculty of Health Sciences, University of Macau, Macao 2.Laboratory for Neuroimmunology in Health and Diseases, Guangzhou First People’s Hospital School of Medicine, South China University of Technology, Guangzhou, China 3.Department of Neurology, The First Affiliated Hospital, Sun Yat-Sen University, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology, Guangzhou, China 4.Key Laboratory of Biological Targeting Diagnosis, Therapy and Rehabilitation of Guangdong Higher Education Institutes, The Fifth Affiliated Hospital of Guangzhou Medical University, Guangzhou, 510799, China |
| First Author Affilication | Institute of Chinese Medical Sciences |
| Recommended Citation GB/T 7714 | Huang, Miaodan,Liu, Yong U.,Yao, Xiaoli,et al. Variability in SOD1-associated amyotrophic lateral sclerosis: geographic patterns, clinical heterogeneity, molecular alterations, and therapeutic implications[J]. Translational Neurodegeneration, 2024, 13(1). |
| APA | Huang, Miaodan., Liu, Yong U.., Yao, Xiaoli., Qin, Dajiang., & Su, Huanxing (2024). Variability in SOD1-associated amyotrophic lateral sclerosis: geographic patterns, clinical heterogeneity, molecular alterations, and therapeutic implications. Translational Neurodegeneration, 13(1). |
| MLA | Huang, Miaodan,et al."Variability in SOD1-associated amyotrophic lateral sclerosis: geographic patterns, clinical heterogeneity, molecular alterations, and therapeutic implications".Translational Neurodegeneration 13.1(2024). |
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