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Updated: Aug 20, 2026

Polysome Fractionation and Analysis of Mammalian Translatomes on a Genome-wide Scale
Published on: May 17, 2014
mTOR, translational control and human disease
1Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA.
Abstract:
Many human diseases occur when the precise regulation of cell growth (cell mass/size) and proliferation (rates of cell division) is compromised. This review highlights those human disorders that occur as a result of inappropriate cellular signal transduction through the mammalian target of rapamycin (mTOR), a major pathway that coordinates proper cell growth and proliferation by regulating ribosomal biogenesis and protein translation. Recent studies reveal that the tuberous sclerosis complex (TSC)-1/2, PTEN, and LKB1 tumor suppressor proteins tightly control mTOR. Loss of these tumor suppressors leads to an array of hamartoma syndromes as a result of heightened mTOR signaling. Since mTOR plays a pivotal role in maintaining proper cell size and growth, dysregulation of mTOR signaling results in these benign tumor syndromes and an array of other human disorders.
Insights
Dysregulated mammalian target of rapamycin (mTOR) signaling disrupts cell growth and proliferation, leading to human diseases. Loss of tumor suppressors like TSC-1/2, PTEN, and LKB1 causes hamartoma syndromes due to heightened mTOR activity.
Area of Science:
- Cellular Biology
- Molecular Biology
- Oncology
Background:
- Cell growth and proliferation are tightly regulated processes crucial for human health.
- Disruptions in these processes are implicated in various human diseases.
- The mammalian target of rapamycin (mTOR) pathway is a central regulator of cell growth and proliferation.
Purpose of the Study:
- To review human disorders resulting from aberrant mTOR signaling.
- To highlight the role of tumor suppressor proteins in controlling mTOR.
- To connect dysregulated mTOR signaling to hamartoma syndromes and other diseases.
Main Methods:
- Literature review of studies on mTOR signaling and human diseases.
- Analysis of the role of tuberous sclerosis complex (TSC)-1/2, PTEN, and LKB1 tumor suppressors.
- Examination of the link between mTOR dysregulation and benign tumor syndromes.
Main Results:
- Inappropriate cellular signal transduction via mTOR underlies many human diseases.
- Tuberous sclerosis complex (TSC)-1/2, PTEN, and LKB1 proteins are key regulators of mTOR.
- Loss of these tumor suppressors results in heightened mTOR signaling and hamartoma syndromes.
Conclusions:
- Dysregulation of mTOR signaling is a significant factor in human disease pathogenesis.
- Understanding mTOR regulation is critical for addressing hamartoma syndromes and related disorders.
- Targeting mTOR signaling pathways may offer therapeutic strategies for these conditions.
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Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
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