Therapeutic Strategies for X-Linked Adrenoleukodystrophy, a Representative Peroxisomal Disorder

Morita, Masashi

doi:10.1007/978-981-15-1169-1_8

Cited by 3 publications

(4 citation statements)

References 132 publications

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“…Major groups of enriched TGDs identified in this study include urea cycle disorders ( n = 13), channelopathies ( n = 21), and porphyria ( n = 2). These disorders are highly treatable or manageable through diet, medications, and lifestyle modifications (Diaz et al, 2013; Fontanellas et al, 2016; Grewal et al, 2016; Häberle et al, 2019; Jiang et al, 2018; Mew et al, 2017; Morita, 2019; Musto et al, 2020; Pischik & Kauppinen, 2015). Taken together, the prevalence of TGDs in our study cohort is more than twice the estimated 1% cumulative prevalence of all single gene disorders globally (Blencowe et al, 2018; WHO, 2020), despite only examining for 108 disorders.…”

Section: Discussionmentioning

confidence: 99%

When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population

Sriretnakumar,

Harripaul,

Kennedy

et al. 2024

American J of Med Genetics Pt A

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Mental illnesses are one of the biggest contributors to the global disease burden. Despite the increased recognition, diagnosis and ongoing research of mental health disorders, the etiology and underlying molecular mechanisms of these disorders are yet to be fully elucidated. Moreover, despite many treatment options available, a large subset of the psychiatric patient population is nonresponsive to standard medications and therapies. There has not been a comprehensive study to date examining the burden and impact of treatable genetic disorders (TGDs) that can present with neuropsychiatric features in psychiatric patient populations. In this study, we test the hypothesis that TGDs that present with psychiatric symptoms are more prevalent within psychiatric patient populations compared to the general population by performing targeted next‐generation sequencing of 129 genes associated with 108 TGDs in a cohort of 2301 psychiatric patients. In total, 48 putative affected and 180 putative carriers for TGDs were identified, with known or likely pathogenic variants in 79 genes. Despite screening for only 108 genetic disorders, this study showed a two‐fold (2.09%) enrichment for genetic disorders within the psychiatric population relative to the estimated 1% cumulative prevalence of all single gene disorders globally. This strongly suggests that the prevalence of these, and most likely all, genetic diseases is greatly underestimated in psychiatric populations. Increasing awareness and ensuring accurate diagnosis of TGDs will open new avenues to targeted treatment for a subset of psychiatric patients.

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Section: Discussionmentioning

confidence: 99%

When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population

Sriretnakumar,

Harripaul,

Kennedy

et al. 2024

American J of Med Genetics Pt A

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“…X-ALD hastalığında başta Lorenzo yağı olmak üzere birçok tedavi denenmiştir 2 . X-ALD hastaları için semptomları hafifletebilen veya asemptomatik aşamada kalmalarını sağlayan ilaçların geliştirilmesi devam etmektedir 17 . Adrenokortikotropik hormon (ACTH), kortizol yetmezliği gelişen hastalarda adrenal hormon tedavisi önerilmektedir 4,15 .…”

Section: Tedaviunclassified

“…Günümüzde, erken semptomatik dönemde olan hastalarda hastalığın ilerlemesinin durdurulmasında hematopoetik kök hücre transplantasyonu (HKHT) etkili bir yöntemdir. Bir diğer yöntem olan gen terapisi, genetik olarak modifiye edilmiş hematopoetik kök hücrelerin kullanılması ile alternatif bir seçenek olma yolundadır ve X-ALD için standart tedavi olması beklenmektedir 17 .…”

Section: X'e Bağlı Serebral Adrenolökodistrofis X-linked Cerebral Adr...unclassified

Nadir Bir Hastalık: X’e Bağlı Çocukluk Çağı Serebral Adrenolökodistrofisi ve Hemşirelik Bakımı

AKCAN

Güney

2022

Hacettepe Üniversitesi Hemşirelik Fakültesi Dergisi

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X’e bağlı Adrenolökodistrofi’nin çocukluk çağı serebral formu beynin beyaz cevher tabakasını ve adrenal korteksi etkileyen, ilerleyici nörodejeneratif semptomları olan nadir peroksizomal bir hastalıktır. 2.5 yaşından önce görülmeyen bu hastalık demiyelinizasyonun zirveye çıktığı 4-10 yaş arasında başlangıç semptomlarını vermeye başlar. Başlangıçta spesifik olmayan semptomlar tanı konulmasını zorlaştırır. Moleküler genetik test ile ABCD1 genindeki mutasyonun belirlenmesi ile kesin tanı konulur. Ciddi nörolojik disfonksiyonu olmayan hastalarda hematopoetik kök hücre nakli ile tedavi edilebilen bir hastalıktır. Nörolojik dejenerasyonun ilerlemesini yavaşlatmada başta Lorenzo yağı olmak üzere alternatif beslenme stratejileri geliştirilmiştir. Tam zamanlı hemşirelik bakımına ihtiyaç duyan bu hastalara verilen kaliteli bir bakım hastaların yaşam kaliteleri önemli ölçüde arttırılabilir.

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“…Many of these disorders are highly treatable or manageable through diet, medications and lifestyle modifications (Diaz et al, 2013;Fontanellas et al, 2016;Häberle et al, 2019;Jiang et al, 2018;Mew et al, 2017;Morita, 2019;Pischik et al, 2015;S Grewal et al, 2016).…”

Section: Prevalence Of Treatable Genetic Disorder Variants Within the Study Cohortmentioning

confidence: 99%

When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population

Sriretnakumar

Harripaul

Kennedy

et al. 2021

Preprint

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Mental illnesses are one of the biggest contributors to the global disease burden. Despite the increased recognition, diagnosis and ongoing research of mental health disorders, the etiology and underlying molecular mechanisms of these disorders are yet to be fully elucidated. Moreover, despite many treatment options available, a large subset of the psychiatric patient population is non-responsive to standard medications and therapies. There has not been a comprehensive study to date examining the burden and impact of treatable genetic disorders (TGDs) that can present with neuropsychiatric features in psychiatric patient populations. In this study, we test the hypothesis that TGDs that present with psychiatric symptoms are more prevalent within psychiatric patient populations compared to the general population by performing targeted next-generation sequencing (NGS) of 129 genes associated with 108 TGDs in a cohort of 2301 psychiatric patients. In total, 72 putative affected and 293 putative carriers for TGDs were identified, with known or likely pathogenic variants in 78 genes. Despite screening for only 108 genetic disorders, this study showed an approximately four-fold (4.13%) enrichment for genetic disorders within the psychiatric population relative to the estimated 1% cumulative prevalence of all single gene disorders globally. This strongly suggests that the prevalence of these, and most likely all, genetic diseases are greatly underestimated in psychiatric populations. Increasing awareness and ensuring accurate diagnosis of TGDs will open new avenues to targeted treatment for a subset of psychiatric patients.

show abstract

Therapeutic Strategies for X-Linked Adrenoleukodystrophy, a Representative Peroxisomal Disorder

Cited by 3 publications

References 132 publications

When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population

When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population

Nadir Bir Hastalık: X’e Bağlı Çocukluk Çağı Serebral Adrenolökodistrofisi ve Hemşirelik Bakımı

When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population

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