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Etiological investigations in apparent type 2 diabetes: when to search for lamin A/C mutations?

Abstract：

:Prevalence of diabetes is increasing worldwide in epidemic proportions. Its appropriate clinical management requires a careful etiological diagnosis. Laminopathies recently emerged as clinically heterogeneous genetic disorders due to mutations in lamins or lamin-associated proteins, which are components of the nuclear envelope. Laminopathies regroup at least eight distinct diseases, belonging to the groups of skeletal and/or cardiac muscular dystrophies, axonal neuropathies, premature ageing syndromes and familial lipodystrophies, all resulting from alterations in LMNA, encoding type A-lamins. Pathophysiological mechanisms explaining how mutations in an unique gene could lead to such various phenotypes are still unknown, but probably involve alterations in cellular mechanical stress responses, in gene expression, and/or in post-translational maturation of lamin A. Familial Partial Lipodystrophy of the Dunnigan type (FPLD2), with specific features of pseudo-cushingoid lipodystrophy, marked insulin resistance and muscular hypertrophy, and a relatively homogeneous genotype, was thought, until recently, to be the only laminopathy causing diabetes. However, recent studies have revealed that insulin resistance and diabetes could be key features of attenuated or more complex phenotypes of laminopathy. In the light of these recent findings, this review will describe the clinical, morphological and biological features that should lead clinicians to consider the diagnosis of laminopathy in a diabetic patient. The recognition of such an etiology for diabetes is important not only for its appropriate medical treatment, but also because specific investigations are required to detect possible asymptomatic life-threatening complications. In addition, the molecular screening of family members allows an earlier efficient clinical management of affected relatives.

journal_name

Diabetes Metab

journal_title

Diabetes & metabolism

authors

Donadille B,Lascols O,Capeau J,Vigouroux C

doi

10.1016/s1262-3636(07)70227-6

subject

Has Abstract

pub_date

2005-12-01 00:00:00

pages

527-32

issue

eissn

1262-3636

issn

1878-1780

pii

s1262-3636(07)70227-6

journal_volume

pub_type

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Etiological investigations in apparent type 2 diabetes: when to search for lamin A/C mutations?