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 Experiment Videos

Ribosomal dysfunction and inherited marrow failure.

Karthik A Ganapathi1, Akiko Shimamura

  • 1Department of Haematology/Oncology, Children's Hospital/Dana Farber Cancer Institute, Boston, MA, USA.

British Journal of Haematology
|April 16, 2008
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

Direct and indirect regulation of fetal globin transcript by RNA-binding protein IGF2BP1.

Blood·2026
Same author

Beyond neutropenia: Immunological evaluation of patients with Shwachman-Diamond syndrome.

British journal of haematology·2026
Same author

Liver stiffness in patients with Shwachman-Diamond syndrome.

JPGN reports·2026
Same author

Timing is everything: age-dependent cancer risk in RUNX1-FPD.

Blood advances·2026
Same author

High-resolution single-cell mapping of clonal hematopoiesis and structural variation in aplastic anemia.

Nature genetics·2026
Same author

Immunosuppressive therapy for severe aplastic anemia in children under the age of 3 years yields a high response rate: a North American collaborative study.

Haematologica·2026
Same journal

Hyperlactataemia in lymphoma-associated haemophagocytic lymphohistiocytosis: Linked to monocytic glycolysis and adverse prognosis.

British journal of haematology·2026
Same journal

Clinical outcomes of the chemo-free approach in relapsed/refractory follicular lymphoma: A network meta-analysis.

British journal of haematology·2026
Same journal

Early venetoclax dose escalation at minimal residual disease progression may benefit selected acute myeloid leukaemia patients.

British journal of haematology·2026
Same journal

Evaluating high-sensitivity troponin levels in people with sickle cell disease in the emergency department.

British journal of haematology·2026
Same journal

Methaemoglobinaemia: From pathophysiology to contemporary clinical management.

British journal of haematology·2026
Same journal

Effects of chronic lymphocytic leukaemia (CLL)-directed therapy on diffuse large B-cell lymphoma (DLBCL) type Richter transformation compared to de novo DLBCL in a nationwide cohort.

British journal of haematology·2026
See all related articles

Several inherited bone marrow failure syndromes, including Diamond-Blackfan anaemia and dyskeratosis congenita (DC), stem from impaired ribosome biogenesis or function. These disorders highlight distinct molecular pathways affecting hematopoiesis and cancer risk.

Area of Science:

  • Hematology
  • Molecular Biology
  • Genetics

Background:

  • Inherited bone marrow failure syndromes (IBMFS) like Diamond-Blackfan anemia, dyskeratosis congenita (DC), Shwachman-Diamond syndrome, and cartilage-hair hypoplasia share impaired ribosome biogenesis or function as a common characteristic.
  • These distinct genetic disorders present overlapping clinical features, underscoring the critical role of ribosomal pathways in maintaining hematopoietic stem cell function and overall health.

Purpose of the Study:

  • To review the clinical characteristics of major inherited bone marrow failure syndromes associated with ribosome dysfunction.
  • To discuss the molecular mechanisms underlying ribosome biogenesis and function defects in these distinct conditions.
  • To explore potential models linking impaired ribosomal pathways to hematopoiesis and tumorigenesis.

Main Methods:

Related Experiment Videos

  • Literature review of clinical phenotypes of Diamond-Blackfan anaemia, DC, Shwachman-Diamond syndrome, and cartilage-hair hypoplasia.
  • Analysis of molecular studies investigating ribosome biogenesis and function in affected individuals.
  • Exploration of theoretical models for the impact of ribosomal pathway impairment on blood cell formation and cancer development.

Main Results:

  • Each syndrome involves specific defects in distinct aspects of ribosome biogenesis, leading to varied clinical presentations.
  • Molecular investigations reveal diverse genetic underpinnings affecting ribosomal protein synthesis, RNA processing, or ribosome assembly.
  • Impaired ribosome function can disrupt protein translation, leading to cellular stress, DNA damage, and ultimately, bone marrow failure and increased cancer predisposition.

Conclusions:

  • Ribosome biogenesis and function are essential for hematopoietic stem cell maintenance, and their impairment underlies a spectrum of inherited bone marrow failure syndromes.
  • Understanding the specific molecular defects in each syndrome provides insights into the complex interplay between ribosomal pathways, hematopoiesis, and oncogenesis.
  • Targeting ribosomal pathways may offer novel therapeutic strategies for these debilitating genetic disorders.