دورية أكاديمية
أعرض في EDS

Open-Label Sulforaphane Trial in FMR1 Premutation Carriers with Fragile-X-Associated Tremor and Ataxia Syndrome (FXTAS).

التفاصيل البيبلوغرافية
العنوان: Open-Label Sulforaphane Trial in FMR1 Premutation Carriers with Fragile-X-Associated Tremor and Ataxia Syndrome (FXTAS).
المؤلفون: Santos E; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health, Sacramento, CA 95817, USA.; Department of Pediatrics, School of Medicine, University of California, Davis, CA 95817, USA., Clark C; Department of Pediatrics, School of Medicine, University of California, Davis, CA 95817, USA., Biag HMB; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health, Sacramento, CA 95817, USA.; Department of Pediatrics, School of Medicine, University of California, Davis, CA 95817, USA., Tang SJ; Department of Pediatrics, School of Medicine, University of California, Davis, CA 95817, USA., Kim K; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health, Sacramento, CA 95817, USA.; Division of Biostatistics, Department of Public Health Sciences, University of California, Davis, CA 95616, USA., Ponzini MD; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health, Sacramento, CA 95817, USA.; Division of Biostatistics, Department of Public Health Sciences, University of California, Davis, CA 95616, USA., Schneider A; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health, Sacramento, CA 95817, USA.; Department of Pediatrics, School of Medicine, University of California, Davis, CA 95817, USA., Giulivi C; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health, Sacramento, CA 95817, USA.; Department of Molecular Biosciences, School of Veterinary Medicine, University of California, Davis, CA 95616, USA., Montanaro FAM; Child and Adolescent Neuropsychiatry Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.; Department of Education, Psychology, Communication, University of Bari Aldo Moro, 70121 Bari, Italy., Gipe JT; Department of Molecular Biosciences, School of Veterinary Medicine, University of California, Davis, CA 95616, USA., Dayton J; Department of Molecular Biosciences, School of Veterinary Medicine, University of California, Davis, CA 95616, USA., Randol JL; Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, CA 95616, USA., Yao PJ; Laboratory of Clinical Investigation, Intramural Research Program, National Institute on Aging, National Institutes of Health, Baltimore, MD 212241, USA., Manolopoulos A; Laboratory of Clinical Investigation, Intramural Research Program, National Institute on Aging, National Institutes of Health, Baltimore, MD 212241, USA., Kapogiannis D; Laboratory of Clinical Investigation, Intramural Research Program, National Institute on Aging, National Institutes of Health, Baltimore, MD 212241, USA., Hwang YH; Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, CA 95616, USA., Hagerman P; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health, Sacramento, CA 95817, USA.; Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, CA 95616, USA., Hagerman R; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health, Sacramento, CA 95817, USA.; Department of Pediatrics, School of Medicine, University of California, Davis, CA 95817, USA., Tassone F; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health, Sacramento, CA 95817, USA.; Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, CA 95616, USA.
المصدر: Cells [Cells] 2023 Dec 05; Vol. 12 (24). Date of Electronic Publication: 2023 Dec 05.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
اللغة: English
بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409 (Electronic) Linking ISSN: 20734409 NLM ISO Abbreviation: Cells Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Basel, Switzerland : MDPI
مواضيع طبية MeSH: Tremor*/drug therapy , Tremor*/genetics , Tremor*/complications , Leukocytes, Mononuclear*, Adult ; Male ; Female ; Humans ; Fragile X Mental Retardation Protein/genetics ; Ataxia/drug therapy ; Ataxia/genetics ; Biomarkers
مستخلص: Fragile X (FMR1) premutation is a common mutation that affects about 1 in 200 females and 1 in 450 males and can lead to the development of fragile-X-associated tremor/ataxia syndrome (FXTAS). Although there is no targeted, proven treatment for FXTAS, research suggests that sulforaphane, an antioxidant present in cruciferous vegetables, can enhance mitochondrial function and maintain redox balance in the dermal fibroblasts of individuals with FXTAS, potentially leading to improved cognitive function. In a 24-week open-label trial involving 15 adults aged 60-88 with FXTAS, 11 participants successfully completed the study, demonstrating the safety and tolerability of sulforaphane. Clinical outcomes and biomarkers were measured to elucidate the effects of sulforaphane. While there were nominal improvements in multiple clinical measures, they were not significantly different after correction for multiple comparisons. PBMC energetic measures showed that the level of citrate synthase was higher after sulforaphane treatment, resulting in lower ATP production. The ratio of complex I to complex II showed positive correlations with the MoCA and BDS scores. Several mitochondrial biomarkers showed increased activity and quantity and were correlated with clinical improvements.
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معلومات مُعتمدة: P50 HD103526 United States HD NICHD NIH HHS; R01 HD036071 United States HD NICHD NIH HHS; R21 NS128751 United States NS NINDS NIH HHS
فهرسة مساهمة: Keywords: FMR1; FXTAS; neurodegeneration; sulforaphane
المشرفين على المادة: GA49J4310U (sulforaphane)
139135-51-6 (Fragile X Mental Retardation Protein)
0 (Biomarkers)
0 (FMR1 protein, human)
SCR Disease Name: Fragile X Tremor Ataxia Syndrome
تواريخ الأحداث: Date Created: 20231222 Date Completed: 20231225 Latest Revision: 20240210
رمز التحديث: 20240210
مُعرف محوري في PubMed: PMC10741398
DOI: 10.3390/cells12242773
PMID: 38132093
قاعدة البيانات: MEDLINE
الوصف
تدمد:2073-4409
DOI:10.3390/cells12242773