Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin

Blood ◽  
2004 ◽  
Vol 103 (12) ◽  
pp. 4669-4671 ◽  
Author(s):  
Pauline L. Lee ◽  
Ernest Beutler ◽  
Sreenivas V. Rao ◽  
James C. Barton
Keyword(s):  
Early Onset ◽  
Storage Disease ◽  
Causative Gene ◽  
Gene Encoding ◽  
Iron Storage ◽  
Hypogonadotrophic Hypogonadism ◽  
Juvenile Hemochromatosis ◽  
Genetic Abnormalities

AbstractJuvenile hemochromatosis is an early-onset form of iron storage disease characterized by hypogonadotrophic hypogonadism and cardiomyopathy. Recently, the putative causative gene (LOC148738) encoding a protein designated hemojuvelin was cloned. The previously proposed designation of this gene as HFE2 is contrary to established convention, because it is not a member of the HFE family. We suggest that it be designated HJV. We sequenced this gene in members of 2 previously reported kinships that manifest typical juvenile hemochromatosis. In one kinship, 2 previously undescribed mutations of HJV were identified, c.238T>C (C80R) and c.302T>C (L101P). In the second kinship, 2 previously identified mutations, G320V and I222N, were found. These studies confirm that mutations in HJV cause juvenile hemochromatosis. (Blood. 2004;103:4669-4671)

scholarly journals Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson’s disease with brain iron accumulation through pseudo-exon activation

Neurogenetics ◽  
2021 ◽  
Author(s):  
Chiara Cavestro ◽  
Celeste Panteghini ◽  
Chiara Reale ◽  
Alessia Nasca ◽  
Silvia Fenu ◽  
...  
Keyword(s):  
Early Onset ◽  
Cerebellar Atrophy ◽  
Iron Accumulation ◽  
Brain Iron ◽  
Causative Gene ◽  
Coding Regions ◽  
Aberrant Transcript ◽  
Pathogenic Variants ◽  
Intronic Mutation ◽  
Mrna Analysis

AbstractPLA2G6 is the causative gene for a group of autosomal recessive neurodegenerative disorders known as PLA2G6-associated neurodegeneration (PLAN). We present a case with early-onset parkinsonism, ataxia, cognitive decline, cerebellar atrophy, and brain iron accumulation. Sequencing of PLA2G6 coding regions identified only a heterozygous nonsense variant, but mRNA analysis revealed the presence of an aberrant transcript isoform due to a novel deep intronic variant (c.2035-274G > A) leading to activation of an intronic pseudo-exon. These results expand the genotypic spectrum of PLAN, showing the paramount importance of detecting possible pathogenic variants in deep intronic regions in undiagnosed patients.

scholarly journals Missense mutations in theTGM2 gene encoding transglutaminase 2 are found in patients with early-onset type 2 diabetes

2007 ◽  
Vol 28 (11) ◽  
pp. 1150-1150 ◽  
Author(s):  
O. Porzio ◽  
O. Massa ◽  
V. Cunsolo ◽  
C. Colombo ◽  
M. Malaponti ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Early Onset ◽  
Transglutaminase 2 ◽  
Missense Mutations ◽  
Gene Encoding ◽  
Onset Type

AVIAN IRON STORAGE DISEASE: VARIATIONS ON A COMMON THEME?

2012 ◽  
Vol 43 (3s) ◽  
pp. S27-S34 ◽  
Author(s):  
Kirk C. Klasing ◽  
Ellen S. Dierenfeld ◽  
Elizabeth A. Koutsos
Keyword(s):  
Storage Disease ◽  
Common Theme ◽  
Iron Storage

Aceruloplasminemia - a Genetic Iron Storage Disease

2002 ◽  
Vol 40 (6) ◽  
pp. 479-481
Author(s):  
K W Ocran ◽  
H H.-J Schmidt
Keyword(s):  
Storage Disease ◽  
Iron Storage

scholarly journals Adipose Tissue Expansion by Overfeeding Healthy Men Alters Iron Gene Expression

2018 ◽  
Vol 104 (3) ◽  
pp. 688-696 ◽  
Author(s):  
Berenice Segrestin ◽  
José Maria Moreno-Navarrete ◽  
Kevin Seyssel ◽  
Maud Alligier ◽  
Emmanuelle Meugnier ◽  
...  
Keyword(s):  
Gene Expression ◽  
Adipose Tissue ◽  
Serum Iron ◽  
Tissue Expansion ◽  
Lipid Storage ◽  
Mrna Levels ◽  
Intracellular Iron ◽  
Gene Encoding ◽  
Iron Storage ◽  
Healthy Men

Abstract Context Iron overload has been associated with greater adipose tissue (AT) depots. We retrospectively studied the potential interactions between iron and AT during an experimental overfeeding in participants without obesity. Methods Twenty-six participants (mean body mass index ± SD, 24.7 ± 3.1 kg/m2) underwent a 56-day overfeeding (+760 kcal/d). Serum iron biomarkers (ELISA), subcutaneous AT (SAT) gene expression, and abdominal AT distribution assessed by MRI were analyzed at the beginning and the end of the intervention. Results Before intervention: SAT mRNA expression of the iron transporter transferrin (Tf) was positively correlated with the expression of genes related to lipogenesis (lipin 1, ACSL1) and lipid storage (SCD). SAT expression of the ferritin light chain (FTL) gene, encoding ferritin (FT), an intracellular iron storage protein, was negatively correlated to SREBF1, a gene related to lipogenesis. Serum FT (mean, 92 ± 57 ng/mL) was negatively correlated with the expression of SAT genes linked to lipid storage (SCD, DGAT2) and to lipogenesis (SREBF1, ACSL1). After intervention: Overfeeding led to a 2.3 ± 1.3-kg weight gain. In parallel to increased expression of lipid storage–related genes (mitoNEET, SCD, DGAT2, SREBF1), SAT Tf, SLC40A1 (encoding ferroportin 1, a membrane iron export channel) and hephaestin mRNA levels increased, whereas SAT FTL mRNA decreased, suggesting increased AT iron requirement. Serum FT decreased to 67 ± 43 ng/mL. However, no significant associations between serum iron biomarkers and AT distribution or expansion were observed. Conclusion In healthy men, iron metabolism gene expression in SAT is associated with lipid storage and lipogenesis genes expression and is modulated during a 56-day overfeeding diet.

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