Cargando…
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 KIF1A gene mutations. Anterograde transport of membrane organelles is facilitated by the kinesin family protein encoded by the MT-based moto...
Autores principales: | , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9962247/ https://www.ncbi.nlm.nih.gov/pubmed/37259299 http://dx.doi.org/10.3390/ph16020147 |
_version_ | 1784895956889632768 |
---|---|
author | Nair, Ayushi Greeny, Alosh Rajendran, Rajalakshmi Abdelgawad, Mohamed A. Ghoneim, Mohammed M. Raghavan, Roshni Pushpa Sudevan, Sachithra Thazhathuveedu Mathew, Bijo Kim, Hoon |
author_facet | Nair, Ayushi Greeny, Alosh Rajendran, Rajalakshmi Abdelgawad, Mohamed A. Ghoneim, Mohammed M. Raghavan, Roshni Pushpa Sudevan, Sachithra Thazhathuveedu Mathew, Bijo Kim, Hoon |
author_sort | Nair, Ayushi |
collection | PubMed |
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 KIF1A gene mutations. Anterograde transport of membrane organelles is facilitated by the kinesin family protein encoded by the MT-based motor gene KIF1A. Variations in the KIF1A 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. |
format | Online Article Text |
id | pubmed-9962247 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-99622472023-02-26 KIF1A-Associated Neurological Disorder: An Overview of a Rare Mutational Disease Nair, Ayushi Greeny, Alosh Rajendran, Rajalakshmi Abdelgawad, Mohamed A. Ghoneim, Mohammed M. Raghavan, Roshni Pushpa Sudevan, Sachithra Thazhathuveedu Mathew, Bijo Kim, Hoon Pharmaceuticals (Basel) Review 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 KIF1A gene mutations. Anterograde transport of membrane organelles is facilitated by the kinesin family protein encoded by the MT-based motor gene KIF1A. Variations in the KIF1A 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. MDPI 2023-01-19 /pmc/articles/PMC9962247/ /pubmed/37259299 http://dx.doi.org/10.3390/ph16020147 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Nair, Ayushi Greeny, Alosh Rajendran, Rajalakshmi Abdelgawad, Mohamed A. Ghoneim, Mohammed M. Raghavan, Roshni Pushpa Sudevan, Sachithra Thazhathuveedu Mathew, Bijo Kim, Hoon KIF1A-Associated Neurological Disorder: An Overview of a Rare Mutational Disease |
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 | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9962247/ https://www.ncbi.nlm.nih.gov/pubmed/37259299 http://dx.doi.org/10.3390/ph16020147 |
work_keys_str_mv | AT nairayushi kif1aassociatedneurologicaldisorderanoverviewofararemutationaldisease AT greenyalosh kif1aassociatedneurologicaldisorderanoverviewofararemutationaldisease AT rajendranrajalakshmi kif1aassociatedneurologicaldisorderanoverviewofararemutationaldisease AT abdelgawadmohameda kif1aassociatedneurologicaldisorderanoverviewofararemutationaldisease AT ghoneimmohammedm kif1aassociatedneurologicaldisorderanoverviewofararemutationaldisease AT raghavanroshnipushpa kif1aassociatedneurologicaldisorderanoverviewofararemutationaldisease AT sudevansachithrathazhathuveedu kif1aassociatedneurologicaldisorderanoverviewofararemutationaldisease AT mathewbijo kif1aassociatedneurologicaldisorderanoverviewofararemutationaldisease AT kimhoon kif1aassociatedneurologicaldisorderanoverviewofararemutationaldisease |