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Published on: June 15, 2016
DIS3: The Enigmatic Gene in Multiple Myeloma
Yasuyo Ohguchi1, Hiroto Ohguchi1
1Division of Disease Epigenetics, Institute of Resource Development and Analysis, Kumamoto University, 2-2-1 Honjo, Chuo-ku, Kumamoto 860-0811, Japan.
Abstract:
Recent studies have revealed the genetic aberrations involved in the initiation and progression of various cancers, including multiple myeloma (MM), via next-generation sequencing analysis. Notably, DIS3 mutations have been identified in approximately 10% of patients with MM. Moreover, deletions of the long arm of chromosome 13, that includes DIS3, are present in approximately 40% of patients with MM. Regardless of the high incidence of DIS3 mutations and deletions, their contribution to the pathogenesis of MM has not yet been determined. Herein, we summarize the molecular and physiological functions of DIS3, focusing on hematopoiesis, and discuss the characteristics and potential roles of DIS3 mutations in MM. Recent findings highlight the essential roles of DIS3 in RNA homeostasis and normal hematopoiesis and suggest that the reduced activity of DIS3 may be involved in myelomagenesis by increasing genome instability.
Insights
DIS3 mutations and deletions are common in multiple myeloma (MM). Reduced DIS3 activity may drive MM by impairing RNA homeostasis and increasing genome instability.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Next-generation sequencing identifies genetic aberrations in cancer, including multiple myeloma (MM).
- DIS3 mutations occur in ~10% of MM patients, and chromosome 13 deletions including DIS3 occur in ~40% of MM patients.
- The role of DIS3 alterations in MM pathogenesis remains unclear.
Purpose of the Study:
- To summarize the molecular and physiological functions of DIS3.
- To discuss the potential roles of DIS3 mutations in the development of MM.
- To explore the link between DIS3 function, RNA homeostasis, and hematopoiesis in MM.
Main Methods:
- Literature review of studies on DIS3 function and its role in cancer.
- Analysis of genetic data from multiple myeloma patients.
- Synthesis of findings on RNA homeostasis and genome stability.
Main Results:
- DIS3 is crucial for maintaining RNA homeostasis and normal hematopoiesis.
- Reduced DIS3 activity is implicated in myelomagenesis.
- DIS3 alterations may contribute to MM by increasing genome instability.
Conclusions:
- DIS3 plays essential roles in normal hematopoiesis and RNA regulation.
- DIS3 mutations and deletions are significant in MM pathogenesis.
- Impaired DIS3 function could be a driver of multiple myeloma development.
