Dunnigan-type familial partial lipodystrophy (FPLD2):
an enigmatic phenotype
A narrative review
Name
Student number
Tutor
Maastricht University
Faculty of Health, Medicine, and Life Sciences (FHML)
Bachelor Health Sciences
BGZ2241
Date
Photo on cover from manuscript by Camozzi et al (2014)
, Table of contents
Abstract......................................................................................................................................................... 2
Introduction.................................................................................................................................................. 2
Lamins...................................................................................................................................................................2
LMNA, LMNB1 and LMNB2 genes........................................................................................................................3
Laminopathies......................................................................................................................................................3
Lipodystrophies....................................................................................................................................................4
Intracellular mechanism................................................................................................................................ 5
Gene expression hypothesis.................................................................................................................................5
Structural hypothesis............................................................................................................................................6
LMNA mutations leading to FPLD2................................................................................................................. 6
The R482Q and R482W mutations.......................................................................................................................6
The V440M mutation............................................................................................................................................7
Diagnosis....................................................................................................................................................... 7
Gender differences...............................................................................................................................................8
Treatment..................................................................................................................................................... 8
Diet and exercise..................................................................................................................................................8
Metreleptin...........................................................................................................................................................9
Discussion & conclusion................................................................................................................................. 9
Reference list............................................................................................................................................... 11
1
an enigmatic phenotype
A narrative review
Name
Student number
Tutor
Maastricht University
Faculty of Health, Medicine, and Life Sciences (FHML)
Bachelor Health Sciences
BGZ2241
Date
Photo on cover from manuscript by Camozzi et al (2014)
, Table of contents
Abstract......................................................................................................................................................... 2
Introduction.................................................................................................................................................. 2
Lamins...................................................................................................................................................................2
LMNA, LMNB1 and LMNB2 genes........................................................................................................................3
Laminopathies......................................................................................................................................................3
Lipodystrophies....................................................................................................................................................4
Intracellular mechanism................................................................................................................................ 5
Gene expression hypothesis.................................................................................................................................5
Structural hypothesis............................................................................................................................................6
LMNA mutations leading to FPLD2................................................................................................................. 6
The R482Q and R482W mutations.......................................................................................................................6
The V440M mutation............................................................................................................................................7
Diagnosis....................................................................................................................................................... 7
Gender differences...............................................................................................................................................8
Treatment..................................................................................................................................................... 8
Diet and exercise..................................................................................................................................................8
Metreleptin...........................................................................................................................................................9
Discussion & conclusion................................................................................................................................. 9
Reference list............................................................................................................................................... 11
1
