Researchers have revealed a novel association between chromosome 18q deletion syndrome and late-onset combined immunodeficiency (LOCID). Their finding challenges the previously held notion that 18q deletion syndrome only involves humoral immunodeficiency affecting B cells and antibody production. Moreover, the study highlights the need for regular immune function testing in 18q deletion syndrome patients for early diagnosis and improved management.
Read more …Uncovering late-onset combined immune deficiency in chromosome 18q deletion syndrome

International joint research led by Akihisa Osakabe and Yoshimasa Takizawa of the University of Tokyo has clarified the molecular mechanisms in thale cresses (Arabidopsis thaliana) by which the DDM1 (Decreased in DNA Methylation 1) protein prevents the transcription of 'jumping genes.' DDM1 makes 'jumping genes' more accessible for transcription-suppressing chemical marks to be deposited. Because a variant of this protein exists in humans, the discovery provides insight into genetic conditions caused by such 'jumping gene' mutations.
Read more …Opening the right doors: 'Jumping gene' control mechanisms revealed

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