Characterization of the Pank2-/- mouse retinal phenotype as a pre-clinical model for pantothenate kinase-associated neurodegeneration.
Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive movement and vision disorder in the neurodegeneration with brain iron accumulation family of diseases. PKAN is caused by mutations in PANK2, encoding pantothenate kinase 2, causing an inborn error of coenzyme A metabol...
Saved in:
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2025-01-01
|
| Series: | PLoS ONE |
| Online Access: | https://doi.org/10.1371/journal.pone.0326866 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849419112880537600 |
|---|---|
| author | Grace Li-Na Su Suh Young Jeong Dahlia Wafai Wayne Tschetter Dolly Zhen Susan J Hayflick Renee C Ryals |
| author_facet | Grace Li-Na Su Suh Young Jeong Dahlia Wafai Wayne Tschetter Dolly Zhen Susan J Hayflick Renee C Ryals |
| author_sort | Grace Li-Na Su |
| collection | DOAJ |
| description | Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive movement and vision disorder in the neurodegeneration with brain iron accumulation family of diseases. PKAN is caused by mutations in PANK2, encoding pantothenate kinase 2, causing an inborn error of coenzyme A metabolism and leading to iron accumulation in the basal ganglia. Peripheral pigmentary retinopathy is common in people with PKAN. The knockout murine model of the orthologous Pank2 gene is known to manifest retinal degeneration through electroretinography, pupillary response and histology analyses. Our longitudinal characterization of the retinopathy in this model reveals reduced visual performance and reduced photoreceptor thickness compared to wild-type mice. Additionally, retinal perturbations in coenzyme A metabolism and dopamine metabolism pathways mimic those previously observed in the brain. These data extend the murine ocular phenotype associated with loss of function of Pank2. With a measurable behavioral, structural and mechanistic retinal phenotype, this mouse model is an ideal pre-clinical model that can be used to evaluate therapeutics for PKAN. |
| format | Article |
| id | doaj-art-3d8b66a5eb5d42699cdc9d8e37ec8c8b |
| institution | Kabale University |
| issn | 1932-6203 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj-art-3d8b66a5eb5d42699cdc9d8e37ec8c8b2025-08-20T03:32:15ZengPublic Library of Science (PLoS)PLoS ONE1932-62032025-01-01206e032686610.1371/journal.pone.0326866Characterization of the Pank2-/- mouse retinal phenotype as a pre-clinical model for pantothenate kinase-associated neurodegeneration.Grace Li-Na SuSuh Young JeongDahlia WafaiWayne TschetterDolly ZhenSusan J HayflickRenee C RyalsPantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive movement and vision disorder in the neurodegeneration with brain iron accumulation family of diseases. PKAN is caused by mutations in PANK2, encoding pantothenate kinase 2, causing an inborn error of coenzyme A metabolism and leading to iron accumulation in the basal ganglia. Peripheral pigmentary retinopathy is common in people with PKAN. The knockout murine model of the orthologous Pank2 gene is known to manifest retinal degeneration through electroretinography, pupillary response and histology analyses. Our longitudinal characterization of the retinopathy in this model reveals reduced visual performance and reduced photoreceptor thickness compared to wild-type mice. Additionally, retinal perturbations in coenzyme A metabolism and dopamine metabolism pathways mimic those previously observed in the brain. These data extend the murine ocular phenotype associated with loss of function of Pank2. With a measurable behavioral, structural and mechanistic retinal phenotype, this mouse model is an ideal pre-clinical model that can be used to evaluate therapeutics for PKAN.https://doi.org/10.1371/journal.pone.0326866 |
| spellingShingle | Grace Li-Na Su Suh Young Jeong Dahlia Wafai Wayne Tschetter Dolly Zhen Susan J Hayflick Renee C Ryals Characterization of the Pank2-/- mouse retinal phenotype as a pre-clinical model for pantothenate kinase-associated neurodegeneration. PLoS ONE |
| title | Characterization of the Pank2-/- mouse retinal phenotype as a pre-clinical model for pantothenate kinase-associated neurodegeneration. |
| title_full | Characterization of the Pank2-/- mouse retinal phenotype as a pre-clinical model for pantothenate kinase-associated neurodegeneration. |
| title_fullStr | Characterization of the Pank2-/- mouse retinal phenotype as a pre-clinical model for pantothenate kinase-associated neurodegeneration. |
| title_full_unstemmed | Characterization of the Pank2-/- mouse retinal phenotype as a pre-clinical model for pantothenate kinase-associated neurodegeneration. |
| title_short | Characterization of the Pank2-/- mouse retinal phenotype as a pre-clinical model for pantothenate kinase-associated neurodegeneration. |
| title_sort | characterization of the pank2 mouse retinal phenotype as a pre clinical model for pantothenate kinase associated neurodegeneration |
| url | https://doi.org/10.1371/journal.pone.0326866 |
| work_keys_str_mv | AT gracelinasu characterizationofthepank2mouseretinalphenotypeasapreclinicalmodelforpantothenatekinaseassociatedneurodegeneration AT suhyoungjeong characterizationofthepank2mouseretinalphenotypeasapreclinicalmodelforpantothenatekinaseassociatedneurodegeneration AT dahliawafai characterizationofthepank2mouseretinalphenotypeasapreclinicalmodelforpantothenatekinaseassociatedneurodegeneration AT waynetschetter characterizationofthepank2mouseretinalphenotypeasapreclinicalmodelforpantothenatekinaseassociatedneurodegeneration AT dollyzhen characterizationofthepank2mouseretinalphenotypeasapreclinicalmodelforpantothenatekinaseassociatedneurodegeneration AT susanjhayflick characterizationofthepank2mouseretinalphenotypeasapreclinicalmodelforpantothenatekinaseassociatedneurodegeneration AT reneecryals characterizationofthepank2mouseretinalphenotypeasapreclinicalmodelforpantothenatekinaseassociatedneurodegeneration |