Fehlendes IER3IP1-Protein führt zu Hirnentwicklungskrankheit

Jena. A new study on the molecular properties of a study on the most likely explorations of MEDS1 in an Open Access Journal “Cellular and Molecular Life Sciences” published a study under the title “IER3IP1 mutations cause microcephaly through selective inhibition of ER-Golgi transport.” The disease is characterized by Microcephaly (a small head with suspected germ pattern), Epilepsy and Diabetes. Affected child deaths can best be in infancy. The primary cause of the disease is a mutation in the IER3IP1 gene, which is a small protein in the membrane of the endoplasmic reticulum (ER) coded. These proteins are produced by a separate role in the transport of molecules that use the ER and the Golgi apparatus.

The Ergebnisse der Studie is original, das das Fehlen von IER3IP1 bzw. dessen Mutation einen Fehltransport von bestimmten Proteinen verursacht, die essenziell sind voor de Entwicklunglung und die Überleben von Nervenzellen essenziell. Perform the action of the IER3IP1 through a shutdown of the ER membranes and high lysosome activity. Zusätzlich fanden die Wissenschaftler um Research Group Leader Dr. Christoph Kaether is responsible for the transport of sorted proteins, ERGIC53 and the KDEL-Rezeptor 2, which was founded with the help of IER3IP1 in the connection.

New Accreditation for Grundlagenforschung

The results of Jenaer are no longer relevant for the fundamental research and offer another understanding of the Hirnentwicklung. Obwohl MEDS1 one of the selected studies is one of the most important therapies that can not follow direct therapies, there are new possibilities for the research mechanisms. It is interesting to be able to change the active action and the mutation of a very high Krankheit in parallel with a related protein, YIPF5. The knowledge gained can also be part of other neurobiological projects of meaning.

Herausforderungen und nouvelle technological Ansätze

“The elucidation of these complex wars will pose a huge technical problem,” says Dr. Kaether. Progress in Proteomics and Cell Surface Analysis
The team has done everything possible to ensure that the protein transport and specific processing in the messenger cell structure is carried out, while the IER3IP1 errors are carried out.

Potential approaches for skilled therapy

Obwohl de Ergebnisse dieser Study for all me zur Grundlagenforschung beitragen, bieten sie auch Anknüpfungspunkte for possible therapeutic Strategies gegen ahnliche Krankheiten. This ensures that you get the right grain size of protein transport, the modulation of ER stressant herb or a gene therapy.

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Original publication

DOI: https://doi.org/10.1007/s00018-024-05386-x

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