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PubMed · 2147170

Translocation Down's syndrome.

P Lakshminarayana
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Abstract

Among the 500 Down syndrome children karyotyped, 15 (3%) were due to translocation; 10 were 21;21 translocation and five 14;21. There were 9 cases of de novo translocations, while 6 were inherited from father or mother. Family history was characteristic in all the translocation cases, with younger parental age, fetal wastage in the family, recurrence and with the affected child often being either the first or the only liveborn in the family. The pattern of translocation in Madras and the significance of family history in genetic counselling are discussed.

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Down SyndromeFemaleHumansIndiaKaryotypingMaleMaternal AgePedigreePregnancyTranslocation, GeneticJournal Article

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P Lakshminarayana. Translocation Down's syndrome.. https://doi.org/10.1007/bf02722100

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Fasudil induces anti-inflammatory transcriptomic changes and increased proliferation in human trisomy 21 neural progenitor cells.

Down syndrome (DS) results from trisomy for human chromosome 21 and is the most frequent genetic cause of intellectual disability. No effective treatments currently exist that improve neurodevelopment and cognition. Atypical brain development in individuals with DS is apparent before birth, which suggests that the optimal time to begin administration of therapies is prenatally. Human neural progenitor cell (NPC) cultures provide a tractable in vitro model system to examine the effects of trisomy 21 (T21) on neurodevelopment and to measure the effects of pharmacological interventions. Here, we report the results of preclinical studies evaluating 24 candidate therapies. RNA sequencing analyses found that euploid and T21 NPCs showed different transcriptomic responses to five candidate pharmacotherapies. The Rho-associated coiled-coil kinase inhibitor fasudil increased proliferation of T21 NPCs, reduced expression of inflammatory pathway genes in T21 NPCs, and reduced markers of inflammation in LPS-stimulated microglial model systems. These results demonstrate that fasudil can alter multiple T21-associated abnormalities in a beneficial manner, suggesting that fasudil warrants further study as a candidate prenatal pharmacotherapy for DS.

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