Gut microbiome dysbiosis drives metabolic dysfunction in Familial dysautonomia [PDF]
Nature Communications, 2023 Familial dysautonomia is a rare genetic disease caused in part by neurodegeneration. Here, the authors show that the gut-metabolism axis is altered in both patients and transgenic mice and that disease pathology is ameliorated by controlling microbiome ...
Alexandra M. Cheney +16 more
doaj +3 more sources
Spine surgery and complication in familial dysautonomia: a case report [PDF]
Frontiers in SurgeryFamilial dysautonomia (FD) is an inherited severe congenital disease and a rare syndrome associated with progressive neuronal degeneration throughout life.
M. Fava +5 more
doaj +4 more sources
Norepinephrine transporter defects lead to sympathetic hyperactivity in Familial Dysautonomia models [PDF]
Nature Communications, 2022 Sympathetic neurons are affected in familial dysautonomia, a rare disease associated with a mutation in ELP1, but the mechanisms are not fully understood.
Hsueh-Fu Wu +8 more
doaj +2 more sources
Height, weight, and body mass index in patients with familial dysautonomia. [PDF]
PLoS ONE, 2023 BackgroundChildren with familial dysautonomia (FD) are smaller and grow more slowly than the general population. It is unknown whether this abnormal growth is due to comorbidities that patients with FD live with, or if it is a direct effect of the ...
Maria L Cotrina +5 more
doaj +2 more sources
Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia [PDF]
Nature Communications, 2021 Familial dysautonomia is caused by splicing mutation of IKBKAP gene, which induces skipping of exon 20 and subsequent functional loss. Here, the authors report that a synthetic splice modulator RECTAS ameliorates pathogenic exon 20 skipping and shows ...
Masahiko Ajiro +12 more
doaj +2 more sources
The case of a patient with MIRAGE syndrome with familial dysautonomia-like symptoms [PDF]
Human Genome Variation, 2021 We describe a case of posthumously diagnosed MIRAGE syndrome (Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital problems, and Enteropathy) in a girl with a new pathogenic SAMD9 variant (p.F437S), who was initially considered ...
Yuki Kawashima-Sonoyama +5 more
doaj +2 more sources
A Comprehensive NMR Analysis of Serum and Fecal Metabolites in Familial Dysautonomia Patients Reveals Significant Metabolic Perturbations [PDF]
Metabolites, 2023 Central metabolism has a profound impact on the clinical phenotypes and penetrance of neurological diseases such as Alzheimer’s (AD) and Parkinson’s (PD) diseases, Amyotrophic Lateral Sclerosis (ALS) and Autism Spectrum Disorder (ASD). In contrast to the
Stephanann M. Costello +8 more
doaj +2 more sources
Loss of Elp1 disrupts trigeminal ganglion neurodevelopment in a model of familial dysautonomia [PDF]
eLife, 2022 Familial dysautonomia (FD) is a sensory and autonomic neuropathy caused by mutations in elongator complex protein 1 (ELP1). FD patients have small trigeminal nerves and impaired facial pain and temperature perception.
Carrie E Leonard +3 more
doaj +2 more sources
Reduction of retinal ganglion cell death in mouse models of familial dysautonomia using AAV-mediated gene therapy and splicing modulators [PDF]
Scientific Reports, 2023 Familial dysautonomia (FD) is a rare neurodevelopmental and neurodegenerative disease caused by a splicing mutation in the Elongator Acetyltransferase Complex Subunit 1 (ELP1) gene.
Anastasia Schultz +14 more
doaj +2 more sources
Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia [PDF]
Annals of Clinical and Translational NeurologyBackground Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can
Alejandra González‐Duarte +13 more
doaj +2 more sources