EXCITING NEW RESEARCH SUGGESTS KAT6B OVEREXPRESSION CAN REPLACE LOST FUNCTIONS OF KAT6A PREVENTING ABNORMAL DEVELOPMENT. https://lnkd.in/eecs_VTC KAT6A and KAT6B have identical protein domain structures and high sequence similarity in all functional domains; this study reveals how KAT6B can replace lost functions of KAT6A, preventing embryonic lethality and abnormal development providing promising insights for future genetic studies and therapies. KAT6A and KAT6B are part of the histone acetyltransferase family, enzymes fundamental to the regulation of gene expression through the modification of chromatin structure. Mutations or deletions of these genes lead to severe consequences, including intellectual disabilities and developmental anomalies. This study demonstrated that, compensating for the loss of KAT6A by generating transgenic mice overexpressing for KAT6B at 4-fold above endogenous levels in Kat6a–/– mice, rescues the previously described developmental defects resulting from homozygous loss of KAT6A. Remarkably, Kat6a–/–Tg(Kat6b) mice are born, show normal development to adulthood and normal blood cell development in adulthood. In addition to rescuing the anatomical defects resulting from loss of KAT6A, KAT6B overexpression reverted ~90% of the changes in gene expression caused by loss of KAT6A This preliminary data suggest that the target gene specificity of KAT6A can be substituted by the related paralogue KAT6B despite differences in amino acid sequence, if KAT6B is expressed at sufficiently high levels. Fundamentally this data demonstrates the potential for one gene to compensate for another and it is hoped further studies can guide effective therapeutic strategies to manage KAT6A and KAT6B-related disorders and their prevention.
KAT6 Foundation
非盈利组织
West Nyack,NY 457 位关注者
We support individuals and their families living with KAT6A and KAT6B syndromes. 501(c)(3) nonprofit organization
关于我们
The KAT6 Foundation was founded in 2017 by a handful of parents of children identified with mutations on their KAT6A gene. At the time, there were less than 50 known KAT6A cases. In the span of 5 years, our numbers have expanded to over 370 known KAT6A cases worldwide. In 2020, the KAT6A Foundation began fostering connections with the KAT6B community and in 2022, we formally became the KAT6 Foundation, an organization devoted to understanding mutations in both KAT6A and KAT6B genes. Today, there are more than 500 known cases of KAT6 syndromes worldwide, and we expect our numbers to continue to grow. OUR MISSION: The KAT6 Foundation supports individuals and their families who are living with KAT6A and KAT6B syndromes around the world. We advance scientific research aimed at developing treatments to spread awareness of KAT6 syndromes so they can be more easily identified, treated, and studied. We hope that you will reach out to us if your family member was diagnosed with KAT6A or KAT6B. You can join our support group at https://www.facebook.com/groups/803280496369674/. We empathize with your daily struggles associated with this rare disease and are here to support, educate and learn from you. We are the only 501(c)(3) nonprofit organization founded to support the international KAT6A and KAT6B syndrome community. Please consider making a tax-deductible donation to kat6foundation.org.
- 网站
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https://www.kat6foundation.org
KAT6 Foundation的外部链接
- 所属行业
- 非盈利组织
- 规模
- 2-10 人
- 总部
- West Nyack,NY
- 类型
- 非营利机构
- 创立
- 2017
- 领域
- Rare Disease、KAT6A和KAT6B
地点
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主要
3 Louise Drive
US,NY,West Nyack,10994
KAT6 Foundation员工
动态
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EXCITING NEW RESEARCH SUGGESTS KAT6B OVEREXPRESSION CAN REPLACE LOST FUNCTIONS OF KAT6A PREVENTING ABNORMAL DEVELOPMENT. https://lnkd.in/eecs_VTC KAT6A and KAT6B have identical protein domain structures and high sequence similarity in all functional domains; this study reveals how KAT6B can replace lost functions of KAT6A, preventing embryonic lethality and abnormal development providing promising insights for future genetic studies and therapies. KAT6A and KAT6B are part of the histone acetyltransferase family, enzymes fundamental to the regulation of gene expression through the modification of chromatin structure. Mutations or deletions of these genes lead to severe consequences, including intellectual disabilities and developmental anomalies. This study demonstrated that, compensating for the loss of KAT6A by generating transgenic mice overexpressing for KAT6B at 4-fold above endogenous levels in Kat6a–/– mice, rescues the previously described developmental defects resulting from homozygous loss of KAT6A. Remarkably, Kat6a–/–Tg(Kat6b) mice are born, show normal development to adulthood and normal blood cell development in adulthood. In addition to rescuing the anatomical defects resulting from loss of KAT6A, KAT6B overexpression reverted ~90% of the changes in gene expression caused by loss of KAT6A This preliminary data suggest that the target gene specificity of KAT6A can be substituted by the related paralogue KAT6B despite differences in amino acid sequence, if KAT6B is expressed at sufficiently high levels. Fundamentally this data demonstrates the potential for one gene to compensate for another and it is hoped further studies can guide effective therapeutic strategies to manage KAT6A and KAT6B-related disorders and their prevention.
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Show your support by donating $6 for our 600+ KAT6 Warriors! Donate here: https://lnkd.in/gueABbgY #rarediseaseday2025 #rarediseaseawareness #kat6a #kat6b #ultrarare #SupportRare
This Friday: Join Us in Raising Awareness for Rare Disease! This Rare Disease Day, February 28, 2025, show your support by donating $6 for our 600+ KAT6 warriors and help make a meaningful impact. Every donation counts! #RareDiseaseDay #KAT6Foundation #SupportRareDiseases #Donate #RareDiseaseAwareness #MakeADifference
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Thanks to the Genetic Alliance UK and Members of Parliament Ashley Dalton and Peter Dowd for hosting members of the rare disease community at the Houses of Parliament yesterday in recognition of Rare Disease Day today. It was wonderful to meet up with old and new friends in the community and hear of the UK governments commitment to the community and progress with the UK Rare Disease Framework. Wear your stripes with pride this February 28th Rare Disease Day and take a moment to find out more about the 3.5 million people, their families and carers in the UK living with a rare disease. FOP Friends KAT6 Foundation
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Thanks to the Genetic Alliance UK and Members of Parliament Ashley Dalton and Peter Dowd for hosting members of the rare disease community at the Houses of Parliament yesterday in recognition of Rare Disease Day today. It was wonderful to meet up with old and new friends in the community and hear of the UK governments commitment to the community and progress with the Rare Disease Strategy. Wear your stripes with pride this February 28th Rare Disease Day !
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UK FAMILIES: Are you interested in taking part in a new sibling sleep study? The University of Birmingham is conducting an at-home sleep assessment for children with an intellectual disability and their same-household siblings. Children aged 4-15 with an intellectual disability and health needs, along with their siblings, are invited to participate. Each child will wear a movement tracker on their wrist or ankle for 10 days to monitor sleep, while caregivers keep a sleep diary. This study aims to better understand the link between poor sleep, chronic ill health, and its impact on sibling sleep and wellbeing. As a thank you, each participating family will receive reimbursement and an individualised feedback report detailing findings for each child. To take part, simply scan the QR code or click this link to answer four quick screening questions: https://lnkd.in/efMSAZxq. https://lnkd.in/efMSAZxq
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UK FAMILIES: Are you interested in taking part in a new sibling sleep study? The University of Birmingham is conducting an at-home sleep assessment for children with an intellectual disability and their same-household siblings. Children aged 4-15 with an intellectual disability and health needs, along with their siblings, are invited to participate. Each child will wear a movement tracker on their wrist or ankle for 10 days to monitor sleep, while caregivers keep a sleep diary. This study aims to better understand the link between poor sleep, chronic ill health, and its impact on sibling sleep and wellbeing. As a thank you, each participating family will receive reimbursement and an individualised feedback report detailing findings for each child. To take part, simply scan the QR code or click this link to answer four quick screening questions: https://lnkd.in/efMSAZxq. https://lnkd.in/efMSAZxq
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Rare Disease Day event taking place in the UK ! https://lnkd.in/eACxEdDA
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This Rare Disease Day, Let’s Amplify the Voices of Those Affected by Ultra-Rare Diseases Rare diseases often go unnoticed, but for those living with ultra-rare diseases, the challenges are even more profound. These conditions impact a small number of individuals worldwide, making it crucial to raise awareness, secure funding, and support research and clinical trials. On Rare Disease Day, let's come together to help shine a light on these ultra-rare conditions. With increased awareness, we can drive the funding needed for groundbreaking research and clinical trials that can change lives. Every step toward awareness is a step toward finding treatments and improving outcomes for those affected. Join us in the fight for rare and ultra-rare diseases. Together, we can make a difference. Please read on to learn more about: - What makes a rare disease ultra-rare - Getting a diagnosis - What are family and caregiver challenges - Impact on treatment and research - Cost of treatment for rare diseases - How do foundations like ours get funding - Supports networks and advocacy #RareDiseaseDay #UltraRareDisease #RareDiseaseAwareness #Research #ClinicalTrials #SupportRareDiseases #MakeADifference #FundResearch
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This Friday: Join Us in Raising Awareness for Rare Disease! This Rare Disease Day, February 28, 2025, show your support by donating $6 for our 600+ KAT6 warriors and help make a meaningful impact. Every donation counts! #RareDiseaseDay #KAT6Foundation #SupportRareDiseases #Donate #RareDiseaseAwareness #MakeADifference