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Related Concept Videos

Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Mutations01:39

Mutations

Overview
Mutations01:39

Mutations

Overview
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
Cancer02:18

Cancer

Cancers arise due to mutations in genes involved in the regulation of cell division, which leads to unrestricted cell proliferation. Modern science and medicine have made great strides in the understanding and treatment of cancer, including eradicating cancer in some patients. However, there is still no cure for cancer. This is largely due to the fact that cancer is a large group of many diseases.

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Related Experiment Video

Updated: May 30, 2026

Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells
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Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells

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SDH mutations in cancer.

Chiara Bardella1, Patrick J Pollard, Ian Tomlinson

  • 1Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, UK.

Biochimica Et Biophysica Acta
|July 21, 2011
PubMed
Summary
This summary is machine-generated.

Succinate dehydrogenase (SDH) gene mutations cause hereditary paraganglioma/pheochromocytoma syndrome (HPGL/PCC). This review overviews recent genetic, clinical, and molecular advances in understanding HPGL/PCC tumorigenesis.

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Area of Science:

  • Biochemistry
  • Genetics
  • Oncology

Background:

  • Succinate dehydrogenase (SDH), also known as mitochondrial complex II, is crucial for cellular energy metabolism, linking the Krebs cycle and electron transport chain.
  • Germline loss-of-function mutations in SDHA, SDHB, SDHC, SDHD genes, or the SDHAF2 assembly factor, lead to hereditary paraganglioma/pheochromocytoma syndrome (HPGL/PCC).
  • The precise mechanisms by which SDH dysfunction drives tumorigenesis remain largely undetermined, highlighting a critical knowledge gap.

Purpose of the Study:

  • To provide a comprehensive overview of recent advancements in the genetics, clinical manifestations, and molecular underpinnings of HPGL/PCC.
  • To elucidate the role of SDH in tumor suppression, given its central function in cellular metabolism.
  • To consolidate current knowledge on HPGL/PCC tumorigenesis for researchers and clinicians.

Main Methods:

  • Review of recent scientific literature focusing on SDH genetics, clinical outcomes, and molecular biology of HPGL/PCC.
  • Analysis of genetic mutations in SDHA, SDHB, SDHC, SDHD, and SDHAF2 associated with HPGL/PCC.
  • Integration of clinical data and molecular findings to understand disease pathogenesis.

Main Results:

  • Identification of specific germline mutations in SDH genes and SDHAF2 as causative for HPGL/PCC.
  • Elucidation of the link between SDH dysfunction and the development of paragangliomas and pheochromocytomas.
  • Emerging insights into the molecular pathways affected by SDH mutations, potentially involving cellular metabolism and signaling.

Conclusions:

  • SDH gene mutations are definitively linked to HPGL/PCC, underscoring their role as tumor suppressors.
  • Continued research into the molecular mechanisms of SDH-deficient tumors is essential for developing targeted therapies.
  • This overview synthesizes current progress, providing a foundation for future investigations into HPGL/PCC.