Somatic and germline mutation in GRIM-19, a dual function gene involved in mitochondrial metabolism and cell death, is linked to mitochondrion-rich (Hürthle cell) tumours of the thyroid
2005

GRIM-19 mutations in Hürthle cell tumours

Sample size: 52 publication Evidence: moderate

Author Information

Author(s): Máximo V, Botelho T, Capela J, Soares P, Lima J, Taveira A, Amaro T, Barbosa A P, Preto A, Harach H R, Williams D, Sobrinho-Simões M

Primary Institution: IPATIMUP-Institute of Molecular Pathology and Immunology of the University of Porto

Hypothesis

Are GRIM-19 mutations involved in the development of Hürthle cell tumours?

Conclusion

GRIM-19 mutations are linked to the genesis of sporadic Hürthle cell tumours.

Supporting Evidence

  • GRIM-19 mutations were found in four of 26 apparently sporadic Hürthle cell tumours.
  • No mutations were detected in 20 non-Hürthle cell tumours and 96 blood donors.
  • Mutations in GRIM-19 are the first nuclear gene mutations specific to Hürthle cell tumours reported to date.

Takeaway

Some thyroid tumours have a gene mutation that might help them grow and survive better.

Methodology

The study involved searching for GRIM-19 mutations in 52 thyroid tumours and controls, using DNA extraction and sequencing.

Limitations

The study did not find GRIM-19 mutations in known familial Hürthle cell tumours.

Participant Demographics

The study included 26 sporadic Hürthle cell tumours, 20 non-Hürthle cell carcinomas, and 96 blood donor samples.

Statistical Information

P-Value

<0.05

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1038/sj.bjc.6602547

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