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Lipodystrophic laminopathies: Diagnostic clues.
Cristina Guillín-Amarelle1, Antía Fernández-Pombo1, Sofía Sánchez-Iglesias1
1a UETeM-Molecular Pathology Group, Department of Medicine, IDIS-CIMUS , University of Santiago de Compostela , Spain.
Nucleus (Austin, Tex.)
|March 21, 2018
Summary
Laminopathies, caused by LMNA gene variants, affect adipose tissue, leading to lipodystrophies. This review details their clinical features and differential diagnosis.
Area of Science:
- Cell Biology
- Genetics
- Endocrinology
Background:
- The nuclear lamina, primarily composed of lamins, provides nuclear mechanical stability and regulates gene expression.
- Lamin A/C is crucial for nuclear integrity and cellular function.
- Laminopathies arise from genetic variants affecting lamin A/C or its processing.
Purpose of the Study:
- To summarize clinical features of laminopathic lipodystrophies.
- To outline associated comorbidities.
- To provide diagnostic clues for differentiating from other lipodystrophic disorders.
Main Methods:
- Literature review of clinical studies on laminopathies and lipodystrophies.
- Analysis of genetic variants in the LMNA gene and related pathways.
- Clinical case reviews focusing on adipose tissue involvement.
Main Results:
- Laminopathic lipodystrophies include familial partial lipodystrophy type 2 and certain premature aging syndromes.
- These disorders exhibit specific clinical manifestations and comorbidities.
- Differential diagnosis requires careful consideration of genetic and clinical profiles.
Conclusions:
- Laminopathies represent a spectrum of disorders with significant impact on adipose tissue.
- Accurate diagnosis of laminopathic lipodystrophies is essential for management.
- Further research is needed to elucidate the full spectrum and therapeutic strategies.
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