RGD Reference Report - Laminopathies and atherosclerosis. - Rat Genome Database

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Laminopathies and atherosclerosis.

Authors: Al-Shali, KZ  Hegele, RA 
Citation: Al-Shali KZ and Hegele RA, Arterioscler Thromb Vasc Biol. 2004 Sep;24(9):1591-5. Epub 2004 Jun 17.
RGD ID: 1580530
Pubmed: PMID:15205220   (View Abstract at PubMed)
DOI: DOI:10.1161/01.ATV.0000136392.59656.8b   (Journal Full-text)

Laminopathies are genetic diseases that encompass a wide spectrum of phenotypes with diverse tissue pathologies and result mainly from mutations in the LMNA gene encoding nuclear lamin A/C. Some laminopathies affect the cardiovascular system, and a few (namely, Dunnigan-type familial partial lipodystrophy [FPLD2] and Hutchinson-Gilford progeria syndrome [HGPS]) feature atherosclerosis as a key component. The premature atherosclerosis of FPLD2 is probably related to characteristic proatherogenic metabolic disturbances such as dyslipidemia, hyperinsulinemia, hypertension, and diabetes. In contrast, the premature atherosclerosis of HGPS occurs with less exposure to metabolic proatherogenic traits and probably reflects the generalized process of accelerated aging in HGPS. Although some common polymorphisms of LMNA have been associated with traits related to atherosclerosis, the monogenic diseases FPLD2 and HGPS are more likely to provide clues about new pathways for the general process of atherosclerosis. Dunnigan-type familial partial lipodystrophy and Hutchinson-Gilford progeria syndrome are laminopathies caused by mutation in LMNA that feature atherosclerosis, which is related to proatherogenic metabolic disturbances and to the generalized process of accelerated aging, respectively. These monogenic diseases may provide clues about new pathways for atherogenesis.

Molecular Pathway Annotations    Click to see Annotation Detail View

RGD Manual Annotations

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
atherosclerosis pathway  TAS 1580530 RGD 
atherosclerosis pathway  ISOLMNA (Homo sapiens)1580530; 1580530 RGD 
Objects Annotated

Genes (Rattus norvegicus)
Lmna  (lamin A/C)

Genes (Mus musculus)
Lmna  (lamin A)

Genes (Homo sapiens)
LMNA  (lamin A/C)


Additional Information