Lipodystrophy papers of the month


MARCH 2024


Further delineation of Wiedemann‐Rautenstrauch syndrome linked with POLR3A
Khan et al.
Mol Genet Genomic Med
DOIdoi: 10.1002/mgg3.2274
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10958179/


Influence of diet and body weight in treatment-resistant acquired partial lipodystrophy after hematopoietic stem cell transplantation and its potential for metabolic improvement
Ishida et al.
Diabetol Int
DOI: 10.1007/s13340-023-00674-6
https://pubmed.ncbi.nlm.nih.gov/38524924/
 
 
Adipose transplantation improves metabolism and atherosclerosis but not PVAT abnormality or vascular dysfunction in lipodystrophic Seipin/Apoe null mice
Meng et al.
Am J Physiol Cell Physiol
DOI: 10.1152/ajpcell.00698.2023
https://pubmed.ncbi.nlm.nih.gov/38525541/


Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
Fu et al.
Front Endocrinol (Lausanne)
DOI: 10.3389/fendo.2024.1345067
https://pubmed.ncbi.nlm.nih.gov/38544690/
 

SIRT1 serum concentrations in lipodystrophic syndromes
Salvatori et al.
Preprints
https://doi.org/10.20944/preprints202403.0770.v1


Clinicopathological characteristics, treatment and follow-up of lipodystrophia centrifugalis abdominalis infantilis: A retrospective case series in China

Zhao et al.
Australas J Dermatol
DOI: 10.1111/ajd.14203
https://pubmed.ncbi.nlm.nih.gov/38095123/


Mitophagy defect mediates the aging-associated hallmarks in Hutchinson-Gilford progeria syndrome
Sun et al.
Aging Cell
DOI: 10.1111/acel.14143
https://pubmed.ncbi.nlm.nih.gov/38482753/


Rare monogenic causes of steatotic liver disease masquerading as MASLD
Brouwers and Cassiman
J Hepatol
DOI: 10.1016/j.jhep.2024.02.025
https://pubmed.ncbi.nlm.nih.gov/38458321/


Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa
Yaarubi et al.
Orphanet J Rare Dis
DOI: 10.1186/s13023-024-03084-2
https://pubmed.ncbi.nlm.nih.gov/38481246/


FEBRUARY 2024


The genetic basis of the first patient with Wiedemann-Rautenstrauch syndrome in the Russian Federation
Kovalskaia et al.
Genes (Basel)
DOI: 10.3390/genes15020180
https://pubmed.ncbi.nlm.nih.gov/38397171/


SARS-CoV-2 infection alters the phenotype and gene expression of adipocytes
Quaranta et al.
Int J Mol Sci
DOI: 10.3390/ijms25042086
https://pubmed.ncbi.nlm.nih.gov/38396763/


Defining the progeria phenome
Worm et al.
Aging (Albany NY)
DOI: 10.18632/aging.205537
https://pubmed.ncbi.nlm.nih.gov/38345566/


Relationship of fat mass ratio - a biomarker for lipodystrophy - with cardiometabolic traits
Agrawal et al.
Diabetes
DOI: 10.2337/db23-0575
https://pubmed.ncbi.nlm.nih.gov/38345889/


Serum levels of adiponectin differentiate generalized lipodystrophies from anorexia nervosa
Ceccarini et al.
J Endocrinol Invest
DOI: 10.1007/s40618-024-02308-3
https://pubmed.ncbi.nlm.nih.gov/38358463/


The efficacy and safety of glucagon-like peptide-1 agonists in a retrospective study of patients with familial partial lipodystrophy
Foss-Freitas et al.
Diabetes Care
DOI: 10.2337/dc23-1614
https://pubmed.ncbi.nlm.nih.gov/38300898/


JANUARY 2024

Effect of β-estradiol on adipogenesis in a 3T3-L1 Cell model of prelamin A accumulation
Cobelo-Gómez et al.
Int. J. Mol. Sci.
DOI: 10.3390/ijms25021282
https://pubmed.ncbi.nlm.nih.gov/38279282/


Metabolic and other morbid complications in congenital generalized lipodystrophy type 4
Akinci et al.
Am. J. Med. Genet. A.
DOI: 10.1002/ajmg.a.63533
https://pubmed.ncbi.nlm.nih.gov/38234231/


Familial Screening for the Prevention of Rare Diseases: A Focus on Lipodystrophy in Southern Saudi Arabia
Abuzenadah et al.
J. Epidemiol Glob. Health
DOI: 10.1007/s44197-023-00182-5
https://pubmed.ncbi.nlm.nih.gov/38234231/


Perilipin 1: a systematic review on its functions on lipid metabolism and atherosclerosis in mice and humans
Desgrouas et al.
Cardiovasc. Res.
DOI: 10.1093/cvr/cvae005
https://pubmed.ncbi.nlm.nih.gov/38214891/

Epidemiological characteristics of patients with Hutchinson-Gilford progeria syndrome and progeroid laminopathies in China
Wang et al.
Pediatr. Res.
DOI: 10.1038/s41390-023-02981-9
https://pubmed.ncbi.nlm.nih.gov/38191824/
 

Phospholipid biosynthetic pathways and lipodystrophies: a novel syndrome due to PLAAT3 deficiency
Agarwal and Garg
Nat. Rev. Endocrinol.
DOI:
10.1038/s41574-023-00950-0
https://pubmed.ncbi.nlm.nih.gov/38191657/


Impact of lipodystrophy on health-related quality of life: the QuaLip study
Demir et al.
Orphanet J. Rare Dis.
DOI: 10.1186/s13023-023-03004-w
https://pubmed.ncbi.nlm.nih.gov/38183080/

Molecular characterization of the grass carp Bscl2 gene and its expression response to lipid accumulation, nutritional status, insulin and glucagon
Yang et al.
Comp. Biochem. Physiol. B. Biochem. Mol. Biol.
DOI: 10.1016/j.cbpb.2023.110931
https://pubmed.ncbi.nlm.nih.gov/38070669/


Surplus fatty acid synthesis increases oxidative stress in adipocytes and lnduces lipodystrophy
Weng et al.
Nat. Commun.
DOI: 10.1038/s41467-023-44393-7
https://pubmed.ncbi.nlm.nih.gov/38168040/


DECEMBER 2023

Liver transplantation in patient with Berardinelli-Seip syndrome: A literature review and case report
Aliyev et al.
Case Reports
DOI: 10.1111/petr.14680
https://pubmed.ncbi.nlm.nih.gov/38149359/


Molecular mechanisms of perilipin protein function in lipid droplet metabolism
Griseti et al.
FEBS Lett.
DOI: 10.1002/1873-3468.14792
https://pubmed.ncbi.nlm.nih.gov/38140813/


DNA repair-deficient premature aging models display accelerated epigenetic age
Perez et al.
Aging Cell
DOI: 10.1111/acel.14058
https://pubmed.ncbi.nlm.nih.gov/38140713/


Patients' perspective on the medical pathway from first symptoms to diagnosis in genetic lipodystrophy
Mosbah et al.
Eur J Endocrinol.
DOI: 10.1093/ejendo/lvad169

https://pubmed.ncbi.nlm.nih.gov/38128113/


Clinical characteristics of patients with acquired partial lipodystrophy: a multicenter retrospective study
Magno et al.
J Clin Endocrinol Metab.
DOI: 10.1210/clinem/dgad700
https://pubmed.ncbi.nlm.nih.gov/38061004/


The farnesyl transferase inhibitor (FTI) lonafarnib improves nuclear morphology in ZMPSTE24-deficient fibroblasts from patients with the progeroid disorder MAD-B
Odinammadu et al.
Nucleus
DOI: 10.1080/19491034.2023.2288476
https://pubmed.ncbi.nlm.nih.gov/38050983/



NOVEMBER 2023


Preclinical, randomized phase 1, and compassionate use evaluation of REGN4461, a leptin receptor agonist antibody for leptin deficiency
Altarejos et al.
Sci Transl Med.
DOI: 10.1126/scitranslmed.add4897

https://pubmed.ncbi.nlm.nih.gov/37992152/
 
 

Clinical characterisation and comorbidities of acquired Gegneralised lipodystrophy: A 14-year follow-up study

Fernández-Pombo et al.
J Clin Med.
DOI: 10.3390/jcm12237344
https://pubmed.ncbi.nlm.nih.gov/38068396/


Mineralcorticoid receptor antagonism prevents type 2 familial partial lipodystrophy brown adipocyte dysfunction
Schena et al.
Cells
DOI: 10.3390/cells12222586.
https://pubmed.ncbi.nlm.nih.gov/37998321/
 
 

Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling
Schuermans et al.
Nat. Genet.

DOI: 10.1038/s41588-023-01535-3.

https://pubmed.ncbi.nlm.nih.gov/37919452/
 
 

Natural history and comorbidities of generalised and partial lipodystrophy syndromes in Spain
Fernández-Pombo et al.
Front Endocrinol (Lausanne)
DOI: 10.3389/fendo.2023.1250203.
https://pubmed.ncbi.nlm.nih.gov/38034001/