Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

14.9K
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...
14.9K
Mutations01:39

Mutations

94.6K
Overview
94.6K
Mutations01:35

Mutations

44.6K
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...
44.6K
Viral Mutations00:36

Viral Mutations

39.9K
A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
39.9K
Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

64.5K
In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
64.5K
Somatic Spinal Reflexes01:22

Somatic Spinal Reflexes

5.4K
Somatic spinal reflexes are rapid, involuntary muscular responses to external stimuli that involve the somatic musculature and the spinal cord.
One of the most well-known somatic spinal reflexes is the stretch reflex, which is activated by the sudden stretching of a muscle. This reflex involves the activation of specialized sensory receptors called muscle spindles, which are located in the muscle tissue and detect changes in the length and speed of muscle contractions. When a muscle is suddenly...
5.4K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Phase I trial of autologous regulatory T cells for immune aplastic anemia.

Haematologica·2026
Same author

Immune cells display an abnormal maturation and a proinflammatory profile in telomere biology disorders.

Blood advances·2025
Same author

Fetal-hemoglobin-expressing red blood cells ("F cells") consist of three distinct types as revealed by single-cell transcriptomic analysis of circulating reticulocytes.

HemaSphere·2025
Same author

Transposable elements as novel therapeutic targets for PARPi-induced synthetic lethality in PcG-mutated blood cancer.

Blood·2025
Same author

Expression of most retrotransposons in human blood correlates with biological aging.

eLife·2024
Same author

Identification of novel myelodysplastic syndromes prognostic subgroups by integration of inflammation, cell-type composition, and immune signatures in the bone marrow.

eLife·2024
Same journal

Palliative Therapy for Liver and Biliary Neoplasms.

Hematology/oncology clinics of North America·2026
Same journal

Ablative Therapies for Liver Tumors.

Hematology/oncology clinics of North America·2026
Same journal

Pathology of Liver and Biliary Neoplasms.

Hematology/oncology clinics of North America·2026
Same journal

Minimally Invasive Surgery for Liver and Biliary Tract Neoplasms.

Hematology/oncology clinics of North America·2026
Same journal

Surgical Considerations for Primary Liver Neoplasms.

Hematology/oncology clinics of North America·2026
Same journal

Systemic Therapy for Biliary and Liver Neoplasms: Chemotherapy and Immunotherapy.

Hematology/oncology clinics of North America·2026
See all related articles

Related Experiment Video

Updated: Feb 7, 2026

Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues
07:17

Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues

Published on: August 23, 2024

1.8K

Somatic Mutations in Aplastic Anemia.

Ghulam J Mufti1, Judith C W Marsh1

  • 1Department of Haematological Medicine, King's College Hospital, King's College London, Denmark Hill, London SE59RS, UK.

Hematology/Oncology Clinics of North America
|July 27, 2018
PubMed
Summary
This summary is machine-generated.

Aplastic anemia (AA) involves immune responses and clonal disorders like PNH. Genetic mutations may indicate immune escape and predict response to immunosuppressive therapy (IST) in AA patients.

Keywords:
Aplastic anemiaMyeloid neoplasmsSomatic mutationsTreatment

More Related Videos

Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations
10:41

Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations

Published on: March 29, 2017

12.4K
Deciphering the Structural Effects of Activating EGFR Somatic Mutations with Molecular Dynamics Simulation
15:05

Deciphering the Structural Effects of Activating EGFR Somatic Mutations with Molecular Dynamics Simulation

Published on: May 20, 2020

9.3K

Related Experiment Videos

Last Updated: Feb 7, 2026

Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues
07:17

Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues

Published on: August 23, 2024

1.8K
Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations
10:41

Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations

Published on: March 29, 2017

12.4K
Deciphering the Structural Effects of Activating EGFR Somatic Mutations with Molecular Dynamics Simulation
15:05

Deciphering the Structural Effects of Activating EGFR Somatic Mutations with Molecular Dynamics Simulation

Published on: May 20, 2020

9.3K

Area of Science:

  • Hematology
  • Immunology
  • Genetics

Background:

  • Aplastic anemia (AA) is an immune-mediated disorder.
  • AA shares characteristics with clonal disorders such as myelodysplastic syndrome and paroxysmal nocturnal hemoglobinuria (PNH).

Purpose of the Study:

  • To investigate the role of genetic mutations and immune escape mechanisms in aplastic anemia.
  • To understand the correlation between these mutations and response to immunosuppressive therapy (IST).

Main Methods:

  • Analysis of PIGA mutations in PNH clones.
  • Assessment of human leukocyte antigen (HLA) loss and mutations.
  • Detection of somatic mutations common in myeloid malignancies and age-related clonal hematopoiesis.

Main Results:

  • PIGA mutations and HLA loss in PNH clones suggest immune escape and correlate with IST response.
  • Somatic mutations are found in some AA patients, but their significance is complex and context-dependent.

Conclusions:

  • Immune escape mechanisms involving PIGA mutations and HLA loss are relevant in aplastic anemia.
  • The clinical significance of somatic mutations in AA requires further investigation considering patient-specific factors and testing methodologies.