KIF1A-Associated Neurological Disorder: An Overview of a Rare Mutational Disease
KIF1A-associated neurological diseases (KANDs) are a group of inherited conditions caused by changes in the microtubule (MT) motor protein KIF1A as a result of <i>KIF1A</i> gene mutations. Anterograde transport of membrane organelles is facilitated by the kinesin family protein encoded b...
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MDPI AG
2023-01-01
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| Online Access: | https://www.mdpi.com/1424-8247/16/2/147 |
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| author | Ayushi Nair Alosh Greeny Rajalakshmi Rajendran Mohamed A. Abdelgawad Mohammed M. Ghoneim Roshni Pushpa Raghavan Sachithra Thazhathuveedu Sudevan Bijo Mathew Hoon Kim |
| author_facet | Ayushi Nair Alosh Greeny Rajalakshmi Rajendran Mohamed A. Abdelgawad Mohammed M. Ghoneim Roshni Pushpa Raghavan Sachithra Thazhathuveedu Sudevan Bijo Mathew Hoon Kim |
| author_sort | Ayushi Nair |
| collection | DOAJ |
| description | KIF1A-associated neurological diseases (KANDs) are a group of inherited conditions caused by changes in the microtubule (MT) motor protein KIF1A as a result of <i>KIF1A</i> gene mutations. Anterograde transport of membrane organelles is facilitated by the kinesin family protein encoded by the MT-based motor gene <i>KIF1A</i>. Variations in the <i>KIF1A</i> gene, which primarily affect the motor domain, disrupt its ability to transport synaptic vesicles containing synaptophysin and synaptotagmin leading to various neurological pathologies such as hereditary sensory neuropathy, autosomal dominant and recessive forms of spastic paraplegia, and different neurological conditions. These mutations are frequently misdiagnosed because they result from spontaneous, non-inherited genomic alterations. Whole-exome sequencing (WES), a cutting-edge method, assists neurologists in diagnosing the illness and in planning and choosing the best course of action. These conditions are simple to be identified in pediatric and have a life expectancy of 5–7 years. There is presently no permanent treatment for these illnesses, and researchers have not yet discovered a medicine to treat them. Scientists have more hope in gene therapy since it can be used to cure diseases brought on by mutations. In this review article, we discussed some of the experimental gene therapy methods, including gene replacement, gene knockdown, symptomatic gene therapy, and cell suicide gene therapy. It also covered its clinical symptoms, pathogenesis, current diagnostics, therapy, and research advances currently occurring in the field of KAND-related disorders. This review also explained the impact that gene therapy can be designed in this direction and afford the remarkable benefits to the patients and society. |
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| last_indexed | 2024-03-11T08:18:07Z |
| publishDate | 2023-01-01 |
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| series | Pharmaceuticals |
| spelling | doaj.art-9fb74970374941689c4a4777d42cf25a2023-11-16T22:35:41ZengMDPI AGPharmaceuticals1424-82472023-01-0116214710.3390/ph16020147KIF1A-Associated Neurological Disorder: An Overview of a Rare Mutational DiseaseAyushi Nair0Alosh Greeny1Rajalakshmi Rajendran2Mohamed A. Abdelgawad3Mohammed M. Ghoneim4Roshni Pushpa Raghavan5Sachithra Thazhathuveedu Sudevan6Bijo Mathew7Hoon Kim8Department of Pharmacy Practice, Amrita School of Pharmacy, Amrita Vishwa Vidyapeetham, Amrita Health Science Campus, Kochi 682041, IndiaDepartment of Pharmacy Practice, Amrita School of Pharmacy, Amrita Vishwa Vidyapeetham, Amrita Health Science Campus, Kochi 682041, IndiaDepartment of Pharmacy Practice, Amrita School of Pharmacy, Amrita Vishwa Vidyapeetham, Amrita Health Science Campus, Kochi 682041, IndiaDepartment of Pharmaceutical Chemistry, College of Pharmacy, Jouf University, Sakaka, Al Jouf 72341, Saudi ArabiaDepartment of Pharmacy Practice, College of Pharmacy, AlMaarefa University, Ad Diriyah 13713, Saudi ArabiaDepartment of Pharmacy Practice, Amrita School of Pharmacy, Amrita Vishwa Vidyapeetham, Amrita Health Science Campus, Kochi 682041, IndiaDepartment of Pharmaceutical Chemistry, Amrita School of Pharmacy, Amrita Vishwa Vidyapeetham, AIMS Health Sciences Campus, Kochi 682 041, IndiaDepartment of Pharmaceutical Chemistry, Amrita School of Pharmacy, Amrita Vishwa Vidyapeetham, AIMS Health Sciences Campus, Kochi 682 041, IndiaDepartment of Pharmacy, and Research Institute of Life Pharmaceutical Sciences, Sunchon National University, Suncheon 57922, Republic of KoreaKIF1A-associated neurological diseases (KANDs) are a group of inherited conditions caused by changes in the microtubule (MT) motor protein KIF1A as a result of <i>KIF1A</i> gene mutations. Anterograde transport of membrane organelles is facilitated by the kinesin family protein encoded by the MT-based motor gene <i>KIF1A</i>. Variations in the <i>KIF1A</i> gene, which primarily affect the motor domain, disrupt its ability to transport synaptic vesicles containing synaptophysin and synaptotagmin leading to various neurological pathologies such as hereditary sensory neuropathy, autosomal dominant and recessive forms of spastic paraplegia, and different neurological conditions. These mutations are frequently misdiagnosed because they result from spontaneous, non-inherited genomic alterations. Whole-exome sequencing (WES), a cutting-edge method, assists neurologists in diagnosing the illness and in planning and choosing the best course of action. These conditions are simple to be identified in pediatric and have a life expectancy of 5–7 years. There is presently no permanent treatment for these illnesses, and researchers have not yet discovered a medicine to treat them. Scientists have more hope in gene therapy since it can be used to cure diseases brought on by mutations. In this review article, we discussed some of the experimental gene therapy methods, including gene replacement, gene knockdown, symptomatic gene therapy, and cell suicide gene therapy. It also covered its clinical symptoms, pathogenesis, current diagnostics, therapy, and research advances currently occurring in the field of KAND-related disorders. This review also explained the impact that gene therapy can be designed in this direction and afford the remarkable benefits to the patients and society.https://www.mdpi.com/1424-8247/16/2/147KAND<i>KIF1A</i> genemicrotubulekinesin motor proteinneurological disorder |
| spellingShingle | Ayushi Nair Alosh Greeny Rajalakshmi Rajendran Mohamed A. Abdelgawad Mohammed M. Ghoneim Roshni Pushpa Raghavan Sachithra Thazhathuveedu Sudevan Bijo Mathew Hoon Kim KIF1A-Associated Neurological Disorder: An Overview of a Rare Mutational Disease Pharmaceuticals KAND <i>KIF1A</i> gene microtubule kinesin motor protein neurological disorder |
| title | KIF1A-Associated Neurological Disorder: An Overview of a Rare Mutational Disease |
| title_full | KIF1A-Associated Neurological Disorder: An Overview of a Rare Mutational Disease |
| title_fullStr | KIF1A-Associated Neurological Disorder: An Overview of a Rare Mutational Disease |
| title_full_unstemmed | KIF1A-Associated Neurological Disorder: An Overview of a Rare Mutational Disease |
| title_short | KIF1A-Associated Neurological Disorder: An Overview of a Rare Mutational Disease |
| title_sort | kif1a associated neurological disorder an overview of a rare mutational disease |
| topic | KAND <i>KIF1A</i> gene microtubule kinesin motor protein neurological disorder |
| url | https://www.mdpi.com/1424-8247/16/2/147 |
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