Lethal Restrictive Dermopathy with ZMPSTE24 Mutation

2021 ◽  
pp. 109352662110653
Author(s):  
Immanuel Pradeep ◽  
Kalpana Gowrishankar ◽  
Lakshmi Shanmugasundaram
Keyword(s):  
Protein Synthesis ◽  
Adipose Tissue ◽  
Genetic Counseling ◽  
Connective Tissue ◽  
Molecular Diagnosis ◽  
Early Recognition ◽  
Perinatal Period ◽  
Histological Features ◽  
Tissue Abnormalities ◽  
Restrictive Dermopathy

Lethal restrictive dermopathy is genodermatoses associated with lamin protein defects resulting in connective tissue abnormalities of skin, musculoskeletal, and adipose tissue. We report one such case with a mutation in the ZMPSTE24 gene which is involved in lamin protein synthesis, resulting in fetal akinesia or hypokinesia deformation sequence. Early recognition in the perinatal period of distinctive clinical and skin histological features followed by molecular diagnosis enabled genetic counseling for the affected family.

METABOLISM IN ADIPOSE TISSUE AND MUSCLE OF THE YOUNG PIG

1990 ◽  
Vol 70 (1) ◽  
pp. 199-206 ◽  
Author(s):  
O. ADEOLA ◽  
B. W. McBRIDE ◽  
R. O. BALL ◽  
L. G. YOUNG
Keyword(s):  
Skeletal Muscle ◽  
Protein Synthesis ◽  
Adipose Tissue ◽  
Key Words ◽  
Adenosine Deaminase ◽  
Subcutaneous Adipose Tissue ◽  
Muscle Metabolism ◽  
Acetate Incorporation ◽  
Glycerol Release ◽  
Subcutaneous Adipose

Subcutaneous adipose tissue and intercostal and sartorius muscles from five barrows and five gilts at 20 kg liveweight were used to study lipogenesis, lipolysis, Na+, K+-ATPase-dependent respiration and protein synthesis. Lipogenesis rate measured by 14C-acetate incorporation into lipid was similar between barrows and gilts; and 100 μg insulin per mL enhanced (P < 0.1) subcutaneous adipose tissue lipogenesis by 74%. Lipolysis rate quantitated by glycerol release was similar between barrows and gilts (3546 and 4160 nmol g−1 2 h−1). Adenosine deaminase and norepinephrine together enhanced adipose tissue lipolytic response by 102%. Fractional and absolute rates of protein synthesis were similar between barrows and gilts (3.24 and 3.69% d−1; 6.01 and 6.06 mg g−1 d−1); and between intercostal and sartorius muscles. Barrows had lower Na+, K+-ATPase-dependent respiration than gilts and the maintenance of Na+ and K+ transmembrane ionic gradient in the muscle preparations accounted for 23–26% of total respiration. Key words: Pigs, adipose tissue, skeletal muscle, metabolism

Lipoma of the left tonsillar fossa

1994 ◽  
Vol 108 (6) ◽  
pp. 507-508 ◽  
Author(s):  
R. Benson-Mitchell ◽  
N. Tolley ◽  
C. B. Croft ◽  
D. Roberts
Keyword(s):  
Adipose Tissue ◽  
Connective Tissue ◽  
Literature Review ◽  
Clinical Presentation ◽  
Aerodigestive Tract ◽  
Upper Aerodigestive Tract ◽  
Tonsillar Fossa ◽  
Subcutaneous Tissues

AbstractLipomas are common benign connective tissue tumours composed of adult adipose tissue. They are relatively rare in the upper aerodigestive tract, although they occur with considerable frequency in other areas, particularly in the subcutaneous tissues of the neck. Although there are several reports of this tumour occurring in the oropharynx, there is no recorded case of a lipoma of the tonsillar fossa. An 83-year-old man with a left tonsillar fossa lipoma is presented. Clinical presentation, management and a literature review are discussed.

scholarly journals Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities

2018 ◽  
Vol 103 (2) ◽  
pp. 288-295 ◽  
Author(s):  
Eveline Boudin ◽  
Tjeerd R. de Jong ◽  
Tim C.R. Prickett ◽  
Bruno Lapauw ◽  
Kaatje Toye ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Allelic Loss ◽  
Loss Of Function ◽  
Tissue Abnormalities

scholarly journals Regulation of the leptin content of obese human adipose tissue

2001 ◽  
Vol 280 (3) ◽  
pp. E399-E404 ◽  
Author(s):  
C. D. Russell ◽  
M. R. Ricci ◽  
R. E. Brolin ◽  
E. Magill ◽  
S. K. Fried
Keyword(s):  
Protein Synthesis ◽  
Adipose Tissue ◽  
Subcutaneous Tissue ◽  
Human Adipose Tissue ◽  
Serum Leptin ◽  
Inhibition Of Protein Synthesis ◽  
Membrane Bound ◽  
Per Se ◽  
Obese Human

The objective of this study was to determine whether obese human adipose tissue contains preformed stores of leptin and their relationship to secreted leptin. Detergent increased detectable leptin by about twofold, suggesting that leptin is stored in a membrane-bound location. Subcutaneous tissue leptin was ∼1.6-fold higher than omental, paralleling known differences in leptin secretion and expression. The amount of leptin secreted during a 3-h incubation was similar to that of extractable tissue leptin. Tissue leptin levels were maintained over the incubation. Inhibition of protein synthesis decreased tissue leptin content but did not decrease leptin secretion until after 3 h of incubation. Culture of adipose tissue for 2 days with the combination of insulin and dexamethasone, but not with either hormone alone, increased tissue leptin content about twofold in both depots. Although insulin did not affect tissue leptin content, it potentiated leptin secretion (as a % of tissue stores). These data suggest that adipose tissue leptin storage and secretion per se are regulated. Regulation of the release of preformed leptin may modulate serum leptin levels in obese humans.

scholarly journals PPARγ regulates adipose triglyceride lipase in adipocytes in vitro and in vivo

2007 ◽  
Vol 293 (6) ◽  
pp. E1736-E1745 ◽  
Author(s):  
Erin E. Kershaw ◽  
Michael Schupp ◽  
Hong-Ping Guan ◽  
Noah P. Gardner ◽  
Mitchell A. Lazar ◽  
...  
Keyword(s):  
Protein Synthesis ◽  
Adipose Tissue ◽  
Lipid Metabolism ◽  
Protein Synthesis Inhibitor ◽  
Adipose Triglyceride Lipase ◽  
Dependent Manner ◽  
Triglyceride Lipase ◽  
Brown Adipose

Peroxisome proliferator-activated receptor-γ (PPARγ) regulates adipocyte genes involved in adipogenesis and lipid metabolism and is the molecular target for thiazolidinedione (TZD) antidiabetic agents. Adipose triglyceride lipase (ATGL) is a recently described triglyceride-specific lipase that is induced during adipogenesis and remains highly expressed in mature adipocytes. This study evaluates the ability of PPARγ to directly regulate ATGL expression in adipocytes in vitro and in vivo. In fully differentiated 3T3-L1 adipocytes, ATGL mRNA and protein are increased by TZD and non-TZD PPARγ agonists in a dose- and time-dependent manner. Rosiglitazone-mediated induction of ATGL mRNA is rapid and is not inhibited by the protein synthesis inhibitor cycloheximide, indicating that intervening protein synthesis is not required for this effect. Rosiglitazone-mediated induction of ATGL mRNA and protein is inhibited by the PPARγ-specific antagonist GW-9662 and is also significantly reduced following siRNA-mediated knockdown of PPARγ, supporting the direct transcriptional regulation of ATGL by PPARγ. In vivo, ATGL mRNA and protein are increased by rosiglitazone treatment in white and brown adipose tissue of mice with and without obesity due to high-fat diet or leptin deficiency. Thus, PPARγ positively regulates ATGL mRNA and protein expression in mature adipocytes in vitro and in adipose tissue in vivo, suggesting a role for ATGL in mediating PPARγ's effects on lipid metabolism.

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