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AAAS mutations were identified in two families with hereditary spastic paraplegia.
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Mutation in AAAS gene is associated with triple A syndrome.
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Clinical and genetic characteristics of six patients with triple A syndrome and AAAS mutations are described.
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Nine different AAAS mutations were found, including one new mutation: c.755G>C, p.(Trp252Ser) in a French cohort of Triple A syndrome patients.
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This study demonstrated that a single splicing mutation affects the AAAS transcripts and consequently the ALADIN protein structure and function.
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Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty.
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down-regulating ALADIN results in decreased oxidative stress response leading to alteration in steroidogenesis, highlighting our knock-down cell model as an important in-vitro tool for studying the adrenal phenotype in triple A syndrome
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Data suggest ALADIN is involved in resistance to oxidative stress in adrenocortical cells/neurons; ALADIN knockdown down-regulates StAR (steroidogenic acute regulatory protein) and P45011beta (cytochrome P450 family 11 subfamily B polypeptide 1).
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The compromising c.43C>A mutation is predicted to cause a p.Gln15Lys amino acid substitution in the ALADIN protein.
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identification of two novel mutations in the AAAS gene associated with achalasia adrenocortical insufficiency alacrimia syndrome
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Sequencing of the AAAS gene detected a compound heterozygous mutation consisting of a novel mutation p.Ser296Tyr (c.887C>A) in exon 9 and a previously described p.Ser263Pro (c.787T>C) missense mutation in exon 8 in both siblings triple A syndrome.
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In all children with mutation in AAAS gene, regular follow up of adrenal function is necessary to avoid adrenal crisis and start substitution therapy as soon as adrenal insufficiency is noted.
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Study broadened the allelic and phenotypic spectrum of Allgrove syndrome due to AAAS mutations; the recurrence of the Leu469Pro mutation highlights a possible major role for this alteration in the Italian population.
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ALADIN interact with FTH1 and FTH1 nuclear translocation is enhanced when ALADIN is coexpressed.
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a homozygous G -->A transition in exon 9 of the newly identified AAAS gene, resulting in a stop codon (W295X) and predicting a truncated protein with loss of function
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plays a cell type-specific role in regulating nucleocytoplasmic transport and that this function is essential for the proper maintenance andor development of certain tissues; NPC targeting is essential for the function of ALADIN
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myoclonus and generalized digestive dysmotility in triple a syndrome is connected to AAAS gene mutation
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In addition to known ophthalmic manifestations, triple-A syndrome can present with accommodative dysregulation and ocular signs of autonomic dysfunction.
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Further studies have to investigate the role of ALADIN at NPCs and to identify interacting proteins. Functional analyses of ALADIN may permit further understanding of its role for adrenocortical function and neurodevelopment.
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Widespread but not ubiquitous or uniform expression of AAAS mRNA in the developing rat embryo.
