Research Themes in KAT6A Syndrome: A Scoping Review DOI Creative Commons
Tanya Tripathi, Miya St John, Jordan Wright

и другие.

DNA, Год журнала: 2025, Номер 5(2), С. 21 - 21

Опубликована: Апрель 27, 2025

Pathogenic variants in the KAT6A gene cause syndrome, a neurodevelopmental disorder characterised by intellectual disability (ID), developmental delay, speech and language challenges, feeding difficulties, skeletal abnormalities. This scoping review synthesises current knowledge on identifies key research themes, supports mission of advocacy groups like KAT6 Foundation. A systematic search five databases (Ovid MEDLINE, Ovid EMBASE, PubMed, Web Science, Scopus) was conducted from 1990 to 2024, including peer-reviewed articles, preprints, conference abstracts published 2022 onward. Of 771 citations retrieved, 111 full-text articles were reviewed, with 62 meeting inclusion criteria. Data synthesised into six themes: (1) genotype phenotype map, revealing broad phenotypic spectrum common features ID, absent speech, craniofacial dysmorphism, as well rare such severe aplastic anaemia pancraniosynostosis; (2) profile, detailing communication deficits, sleep disturbances, impaired adaptive functioning; (3) epigenetic roles KAT6A, highlighting its critical function histone acetylation, chromatin remodelling, regulation; (4) molecular biomarkers, identifying distinct DNA methylation episignatures dysregulated cellular pathways; (5) drug discovery, preliminary studies suggesting that pantothenate L-carnitine may mitigate mitochondrial dysfunction acetylation while RSPO2 overexpression reverses cognitive impairment animal models; (6) overlap Rett syndrome KAT6B-related disorders. underscores complexity variability need for multidisciplinary approaches improving diagnosis, management, development therapies. Future should focus longitudinal studies, underrepresented phenotypes, biomarker identification, robust therapeutic trials enhance outcomes affected individuals their families.

Язык: Английский

RNA Polymerase II Activity Control of Gene Expression and Involvement in Disease DOI Creative Commons

James C. Kuldell,

Craig D. Kaplan

Journal of Molecular Biology, Год журнала: 2024, Номер 437(1), С. 168770 - 168770

Опубликована: Авг. 28, 2024

Gene expression is dependent on RNA Polymerase II (Pol II) activity in eukaryotes. In addition to determining the rate of synthesis for all protein coding genes, Pol serves as a platform recruitment factors and regulation co-transcriptional events, from processing chromatin modification remodeling. The transcriptome can be shaped by changes kinetics affecting itself or because alterations events that are responsive coupled with transcription. Genetic, biochemical, structural approaches model organisms have revealed critical insights into how works types regulate it. complexity generally increases organismal complexity. this review, we describe fundamental aspects shape gene expression, discuss recent advances elongation regulated altered function linked human disease aging.

Язык: Английский

Процитировано

4
Facing challenges in modern steroid research DOI
Jerzy Adamski

The Journal of Steroid Biochemistry and Molecular Biology, Год журнала: 2025, Номер unknown, С. 106715 - 106715

Опубликована: Фев. 1, 2025

Язык: Английский

Процитировано

0
Research Themes in KAT6A Syndrome: A Scoping Review DOI Creative Commons
Tanya Tripathi, Miya St John, Jordan Wright

и другие.

DNA, Год журнала: 2025, Номер 5(2), С. 21 - 21

Опубликована: Апрель 27, 2025

Pathogenic variants in the KAT6A gene cause syndrome, a neurodevelopmental disorder characterised by intellectual disability (ID), developmental delay, speech and language challenges, feeding difficulties, skeletal abnormalities. This scoping review synthesises current knowledge on identifies key research themes, supports mission of advocacy groups like KAT6 Foundation. A systematic search five databases (Ovid MEDLINE, Ovid EMBASE, PubMed, Web Science, Scopus) was conducted from 1990 to 2024, including peer-reviewed articles, preprints, conference abstracts published 2022 onward. Of 771 citations retrieved, 111 full-text articles were reviewed, with 62 meeting inclusion criteria. Data synthesised into six themes: (1) genotype phenotype map, revealing broad phenotypic spectrum common features ID, absent speech, craniofacial dysmorphism, as well rare such severe aplastic anaemia pancraniosynostosis; (2) profile, detailing communication deficits, sleep disturbances, impaired adaptive functioning; (3) epigenetic roles KAT6A, highlighting its critical function histone acetylation, chromatin remodelling, regulation; (4) molecular biomarkers, identifying distinct DNA methylation episignatures dysregulated cellular pathways; (5) drug discovery, preliminary studies suggesting that pantothenate L-carnitine may mitigate mitochondrial dysfunction acetylation while RSPO2 overexpression reverses cognitive impairment animal models; (6) overlap Rett syndrome KAT6B-related disorders. underscores complexity variability need for multidisciplinary approaches improving diagnosis, management, development therapies. Future should focus longitudinal studies, underrepresented phenotypes, biomarker identification, robust therapeutic trials enhance outcomes affected individuals their families.

Язык: Английский

Процитировано

0