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

Laminopathies: multisystem dystrophy syndromes.

Katherine N Jacob1, Abhimanyu Garg

  • 1Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, 75390-9052, USA.

Molecular Genetics and Metabolism
|December 21, 2005
PubMed
Summary

Laminopathies, genetic disorders from abnormal lamins, affect multiple organs. Research is ongoing to understand how LMNA gene mutations cause these diverse multisystem diseases.

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

Familial Generalized and Partial Lipodystrophies Due to Rare Biallelic Variants in <i>LMNA</i>.

International journal of molecular sciences·2026
Same author

Genotype-phenotype heterogeneity among patients with lipodystrophy harboring rare POLD1 variants.

The Journal of clinical endocrinology and metabolism·2026
Same author

Novel Homozygous Variants in CIDEC and WRN in a Young Female with Lipodystrophy and Thyroid Cancer.

International journal of molecular sciences·2026
Same author

Response to letter to the editor by Matsubara and colleagues.

Journal of clinical lipidology·2026
Same author

A recurrent ACAA2 variant causes a dominant syndrome of lipodystrophy, lipomatosis, infantile steatohepatitis, and hypoglycemia.

The Journal of clinical investigation·2025
Same author

Erratum. Gain of Function NOTCH3 Variants Cause Familial Partial Lipodystrophy Due to Activation of Senescence Pathways. Diabetes 2025;74:427-438.

Diabetes·2025

Area of Science:

  • Genetics
  • Cell Biology
  • Molecular Medicine

Background:

  • Laminopathies are genetic disorders caused by abnormalities in type A lamins.
  • These conditions affect multiple organs, including muscles, adipose tissue, nervous system, skin, and bone.
  • Mutations in the LMNA gene cause primary laminopathies, while ZMPSTE24 gene mutations lead to secondary laminopathies.

Purpose of the Study:

  • To investigate the genetic basis and clinical manifestations of laminopathies.
  • To understand the cellular mechanisms underlying the multisystemic effects of laminopathies.
  • To explore the pleiotropic nature of laminopathies.

Main Methods:

  • Analysis of genetic mutations in LMNA and ZMPSTE24 genes.
  • Examination of skin fibroblast cell morphology in patients.

Related Experiment Videos

  • Investigating the processing of prelamin A.

    • Main Results:

    • LMNA mutations cause primary laminopathies like lipodystrophies, muscular dystrophies, and progeroid syndromes.
    • ZMPSTE24 mutations cause secondary laminopathies such as mandibuloacral dysplasia and restrictive dermopathy.
    • Abnormal nuclear morphology, including blebs and multi-lobulated nuclei, is observed in patient-derived fibroblasts.

    Conclusions:

    • Laminopathies result from abnormalities in type A lamins, leading to diverse clinical phenotypes.
    • The mechanisms driving the multisystemic involvement and pleiotropy in laminopathies require further investigation.
    • Understanding these mechanisms is crucial for developing targeted therapies.