Laminopathies: Multisystem dystrophy syndromes

Katherine N. Jacob, Abhimanyu Garg

Research output: Contribution to journalArticle

88 Citations (Scopus)

Abstract

Laminopathies are a heterogeneous group of genetic disorders due to abnormalities in type A lamins and can manifest varied clinical features affecting many organs including the skeletal and cardiac muscle, adipose tissue, nervous system, cutaneous tissue, and bone. Mutations in the gene encoding lamins A and C (LMNA) cause primary laminopathies, including various types of lipodystrophies, muscular dystrophies and progeroid syndromes, mandibuloacral dysplasia, dilated cardiomyopathies, and restrictive dermopathy. The secondary laminopathies are due to mutations in ZMPSTE24 gene which encodes for a zinc metalloproteinase involved in processing of prelamin A into mature lamin A and cause mandibuloacral dysplasia and restrictive dermopathy. Skin fibroblast cells from many patients with laminopathies show a range of abnormal nuclear morphology including bleb formation, honeycombing, and presence of multi-lobulated nuclei. The mechanisms by which mutations in LMNA gene cause multisystem dystrophy are an active area of current investigation. Further studies are needed to understand the underlying mechanisms of marked pleiotropy in laminopathies.

Original languageEnglish (US)
Pages (from-to)289-302
Number of pages14
JournalMolecular Genetics and Metabolism
Volume87
Issue number4
DOIs
StatePublished - Apr 2006

Fingerprint

Lamin Type A
Mutation
Genes
Tissue
Lipodystrophy
Skin
Inborn Genetic Diseases
Gene encoding
Muscular Dystrophies
Dilated Cardiomyopathy
Neurology
Metalloproteases
Fibroblasts
Blister
Nervous System
Muscle
Adipose Tissue
Zinc
Myocardium
Bone

Keywords

  • Lamin A/C
  • Laminopathy
  • Lipodystrophy
  • LMNA
  • Muscular dystrophy
  • Progeria

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Endocrinology, Diabetes and Metabolism

Cite this

Laminopathies : Multisystem dystrophy syndromes. / Jacob, Katherine N.; Garg, Abhimanyu.

In: Molecular Genetics and Metabolism, Vol. 87, No. 4, 04.2006, p. 289-302.

Research output: Contribution to journalArticle

Jacob, Katherine N. ; Garg, Abhimanyu. / Laminopathies : Multisystem dystrophy syndromes. In: Molecular Genetics and Metabolism. 2006 ; Vol. 87, No. 4. pp. 289-302.
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