ArticleGenetics in medicine : official journal of the American College of Medical Genetics2011
Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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40 citing papers in PubMed, 69 citations in OpenAlex.
- Transcriptomic signatures in brain and blood related to cognitive and psychiatric phenotypes of Prader-Willi syndrome.Scientific reports · 2025Article
- Mitochondrial dysfunction in brain tissues and Extracellular Vesicles Fragile X-associated tremor/ataxia syndrome.Annals of clinical and translational neurology · 2024Article
- Structure and Alternative Splicing of the Antisense FMR1 (ASFMR1) Gene.Molecular neurobiology · 2023Article
- Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome.American journal of medical genetics. Part A · 2023Article
- Evaluation of the role ofFrontiers in aging neuroscience · 2023Article
- Article
- Molecular Pathogenesis and Peripheral Monitoring of Adult Fragile X-Associated Syndromes.International journal of molecular sciences · 2021Review
- Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disorders.Translational psychiatry · 2020Article
- FMR1 locus isoforms: potential biomarker candidates in fragile X-associated tremor/ataxia syndrome (FXTAS).Scientific reports · 2020Article
- Elevated FMR1-mRNA and lowered FMRP - A double-hit mechanism for psychiatric features in men with FMR1 premutations.Translational psychiatry · 2020Article
- Genome-wide prediction and prioritization of human aging genes by data fusion: a machine learning approach.BMC genomics · 2019Article
- Significantly ElevatedInternational journal of molecular sciences · 2019Article
- Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features.Molecular autism · 2019Article
- FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Evidence for the role of FMR1 gray zone alleles as a risk factor for parkinsonism in females.Movement disorders : official journal of the Movement Disorder Society · 2018Article
- Prenatal Diagnosis of Fragile X Syndrome in a Twin Pregnancy Complicated by a Complete Retraction.Genes · 2018Article
- Cognitive Deficits and Associated ERP N400 Abnormalities in FXTAS With Parkinsonism.Frontiers in genetics · 2018Article
- Assessment of Molecular Measures in Non-FXTAS Male Premutation Carriers.Frontiers in genetics · 2018Article
- Curvilinear Association Between Language Disfluency andFrontiers in genetics · 2018Article
- β-glucuronidase use as a single internal control gene may confound analysis in FMR1 mRNA toxicity studies.PloS one · 2018Article
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15 authors at 7 institutions in 1 country.
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Abstract
purposeOur previous results showed that both gray zone and lower end premutation range (40-85 repeats) fragile X mental retardation 1 (FMR1) alleles were more common among males with parkinsonism than in the general population. This study aimed to determine whether these alleles have a significant role in the manifestations and pathogenesis of parkinsonian disorders.
methodsDetailed clinical assessment and genetic testing were performed in 14 male carriers of premutation and gray zone FMR1 alleles and in 24 noncarriers identified in a sample of males with parkinsonism.
resultsThe premutation + gray zone carriers presented with more severe symptoms than disease controls matched for age, diagnosis, disease duration, and treatment. The Parkinson disease (Unified Parkinson's Disease Rating Scale) motor score and the measures of cognitive decline (Mini-Mental State Examination and/or Addenbrooke's Cognitive Examination Final Revised Version A scores) were significantly correlated with the size of the CGG repeat and the (elevated) levels of antisense FMR1 and Cytochrome C1 mRNAs in blood leukocytes. In addition, the carriers showed a significant depletion of the nicotinamide adenine dinucleotide, reduced dehydrogenase subunit 1 mitochondrial gene in whole blood.
conclusionSmall CGG expansion FMR1 alleles (gray zone and lower end premutation) play a significant role in the development of the parkinsonian phenotype, possibly through the cytotoxic effect of elevated sense and/or antisense FMR1 transcripts involving mitochondrial dysfunction and leading to progressive neurodegeneration.
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