Human-Gen



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Allgemeine Informationen




Symbol: SST


Chromosom: 3p25.1


Länge: ~ 2 kbm, codiert ein 117-Aminosäuren-langes Peptid


Produkte: Somatostatin-14 (SST-14) und Somatostatin-28 (SST-28), die aus demselben Gen durch alternative Splicing-Varianten entstehen.



Funktion
Somatostatin ist ein peptider Neurohormon, das als Inhibitor in vielen physiologischen Prozessen wirkt:




Hemmung der Sekretion von Wachstumshormonen (GH) und Thyreoidea-stimulierenden Hormonen (TSH).


Unterdrückung von Insulin- und Glukagonfreisetzung.


Regulation des gastrointestinalen Motilitätssystems, einschließlich Erhöhung der Pylorus-Gastrik-Schließmuskulatur.


Modulation von Neurotransmission in zentralen und peripheren Nerven.



Rezeptoren
SST wirkt über fünf G-Protein-gekoppelte Rezeptoren (sst1–sst5).





sst2: Vorherrschend bei der Hemmung des Wachstumshormons.


sst4, sst5: Beteiligung an zentralen Schmerzmodulation und kognitiven Prozessen.



Genetische Assoziationen


SST-Defizienz: Kann zu Hyperprolaktinämie, Hypoglykämien oder atypischen neuroendokrinen Tumoren führen.


Polymorphismen (rs1088515, rs3744702): Assoziiert mit Risikofaktoren für Typ-2-Diabetes und metabolisches Syndrom.


Somatostatin-Analogon-Resistenz: Mutationen im Gen oder in Rezeptoren können die Wirksamkeit von Therapieansätzen wie Octreotid reduzieren.



Klinische Anwendungen


Somatostatin-Analoga (Octreotid, Lanreotide) werden eingesetzt zur Kontrolle hormoneller Tumore und als anti-emetische Therapie.


Therapeutisches Targeting: Einsatz in der Bildgebung von neuroendokrinen Tumoren durch radiolabelierte SST-Analogon-Komplexe.



Expression


Gewebe: Hypothalamus, Bauchspeicheldrüse, Leber, Dünndarm, Gehirnregionen (z. B. Hippocampus).


Regulation: Induktion durch Stressfaktoren, Ernährung und neuronale Aktivität; epigenetische Modulation via DNA-Methylierung.



Forschung & Zukunft
Aktuelle Studien untersuchen:




Die Rolle von SST in der Alzheimer-Krankheit.


Wechselwirkungen zwischen Somatostatin und dem Immunsystem bei Autoimmunerkrankungen.


Genomeditierte Modelle zur Untersuchung von Tumorprogression.






Kurzfassung:

Das Homo sapiens-Gen SST kodiert für das hemmende Peptidhormon Somatostatin, welches über fünf Rezeptoren vielfältige hormonelle und neurophysiologische Signale moduliert. Genetische Varianten beeinflussen Krankheitsrisiken und Therapieantworten, was SST zu einem wichtigen Fokus in Endokrinologie, Onkologie und Neurowissenschaften macht.
Somatostatin (SST) ist ein Peptidhormon, das in verschiedenen Organen des Körpers produziert wird, vor allem im Hypothalamus, im Pankreas und im Gastrointestinaltrakt. Es wirkt als wichtiger regulatorischer Faktor für den Stoffwechsel, indem es die Freisetzung von Wachstumshormonen, Insulin, Glukagon und vielen anderen hormonellen Signalen hemmt. Die physiologischen Wirkungen reichen von der Hemmung des Wachstums bis zur Modulation der Verdauung und des Blutdrucks.



Gene



Das menschliche Somatostatin wird durch das Gene SST codiert. Dieses befindet sich auf Chromosom 3p25.3 und besteht aus einer einzigen Exon, die ein kleines Protein mit 116 Aminosäuren synthetisiert. Das Präprotein wird anschließend in zwei aktive Peptide gespalten: das 14-Amid-SST (SST-14) und das 28-Amid-SST (SST-28). Beide Formen sind biologisch aktiv, wobei SST-14 häufiger vorkommt und als Hauptform im Blut zirkuliert.



Genes and mapped phenotypes



Mutationen oder polymorphe Varianten des SST-Gens können zu einer Reihe von klinischen Phänotypen führen. Studien haben gezeigt, dass bestimmte Single Nucleotide Polymorphisms (SNPs) mit einem erhöhten Risiko für metabolische Störungen wie Typ-2-Diabetes, Adipositas und Insulinresistenz assoziiert sind. Darüber hinaus wurden Varianten des SST-Gens mit einer veränderten Anfälligkeit für neuroendokrine Tumoren in Verbindung gebracht. In einigen Fällen kann eine Fehlregulation von SST zu einem übermäßigen Wachstum von Pankreastumoren führen, da das Hormon normalerweise das Zellwachstum hemmt.



Gene sources



Die Informationen zum SST-Gen stammen aus einer Vielzahl wissenschaftlicher Datenbanken und Publikationen. Die Human Genome Nucleotide Archive (HGNC) listet die offizielle Gene-Name-Nummer 6655 für SST. GenBank enthält mehrere Sequenzannotationen, die von menschlichen Zellkulturen bis zu Geweben aus der Hypophyse reichen. Der Ensembl-Datenbank liefert detaillierte Transkriptvarianten und Expression Profiles in verschiedenen Organen. Darüber hinaus werden klinische Studien über das ClinVar-Portal verzeichnet, welche genetische Varianten mit spezifischen Erkrankungen in Verbindung bringen.



In der Forschung wird SST häufig durch PCR-Amplifikation aus RNA-Quellen wie Hypothalamus- oder Pankreasproben isoliert und anschließend mittels Sequenzierung analysiert. In funktionellen Studien werden CRISPR/Cas9-Technologien genutzt, um gezielte Mutationen einzuführen und die Auswirkungen auf Zelllinien zu beobachten.



Somatostatin spielt also eine zentrale Rolle im endokrinen System, und das SST-Gen ist ein wichtiger genetischer Faktor für viele metabolische und neuroendokrine Erkrankungen. Durch die Kombination von Genomdatenbanken, funktionellen Experimenten und klinischen Beobachtungen wird weiterhin unser Verständnis dieser komplexen regulatorischen Netzwerke vertieft.

Antonio Brookshire, 20 years

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However, such women are aware of the dangers and joyful to seem like a person so as to win. One commonly used trick to effectively reduce the worth of Anavar is to take it with 200ml of grapefruit juice instead of water. There is an enzyme within the intestines and liver, often identified as CYP3A4, which plays a role in breaking down overseas molecules in the physique. Regular cardio or high-intensity interval training could be carried out, which is able to assist to decrease blood stress, whilst assisting in burning extra fats. A tactic some dealers do is to sell Dianabol packaged as Anavar.

Mathias Koonce, 20 years

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