Laminopathies: multiple disorders arising from defects in nuclear architecture.
J Biosci
;
2006 Sep; 31(3): 405-21
Article
in English
| IMSEAR
| ID: sea-111039
ABSTRACT
Lamins are the major structural proteins of the nucleus in an animal cell. In addition to being essential for nuclear integrity and assembly, lamins are involved in the organization of nuclear processes such as DNA replication, transcription and repair. Mutations in the human lamin A gene lead to highly debilitating genetic disorders that primarily affect muscle, adipose, bone or neuronal tissues and also cause premature ageing syndromes. Mutant lamins alter nuclear integrity and hinder signalling pathways involved in muscle differentiation and adipocyte differentiation, suggesting tissue-specific roles for lamins. Furthermore, cells expressing mutant lamins are impaired in their response to DNA damaging agents. Recent reports indicate that certain lamin mutations act in a dominant negative manner to cause nuclear defects and cellular toxicity, and suggest a possible role for aberrant lamins in normal ageing processes.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Humans
/
Cell Differentiation
/
Cell Nucleus
/
Gene Expression Regulation
/
Adipocytes
/
Models, Animal
/
Lamins
/
DNA Repair
/
DNA Replication
/
Genetic Diseases, Inborn
Language:
English
Journal:
J Biosci
Year:
2006
Type:
Article
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