A novel deletion in the iron-response element of the L-ferritin gene, causing hyperferritinaemia cataract syndrome

Garber, Ian; Pudek, Morris

doi:10.1177/0004563214542289

Cited by 3 publications

(2 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Frequent mutations are c.-168G>C/T/A, c.-161C>G/T/A, and c.-160A>G [9]. Small deletions have also been defined [11]. In our study, we found c.-160A>G mutation in 17 patients from 6 families assessed from the provinces of Kayseri and Nevşehir in Turkey.…”

Section: Discussionsupporting

confidence: 49%

A Frequent Mutation in the FTL Gene Causing Hyperferritinemia Cataract Syndrome in Turkish Population Is c.-160A>G

Balta

Erdoğan

Kiraz

et al. 2019

Tjh

View full text Add to dashboard Cite

Objective: Hyperferritinemia cataract syndrome (HFCS) is an autosomal dominantly inherited disease characterized by increased serum ferritin levels and bilateral cataract formation in the early period of life. Heterozygote mutations in the 5’ untranslated region of the L-ferritin gene ( FTL ) have been reported to cause this disease. In this study, our purpose was to research the FTL gene mutations that cause HFCS in Central Anatolia and the clinical effects of these mutations. Materials and Methods: Seventeen patients from 6 families with high ferritin levels in performed serum measurements, those who were found to have cataracts in eye examinations, and families with vertical inheritance, since the disease is autosomal dominant, were included in the study. Exons, exon-intron boundaries, and 5’ and 3’ untranslated regions of FTL (NM_000146) were sequenced using the Sanger sequencing method. Results: The female/male ratio of the patients was 7/10. All of the patients were found to have c.-160A>G heterozygous mutation in the FT L gene. Conclusion: In the Turkish population, the prevalence of HFCS is about 1/100,000 and the commonly observed mutation is c.-160A>G mutation.

show abstract

Section: Discussionsupporting

confidence: 49%

A Frequent Mutation in the FTL Gene Causing Hyperferritinemia Cataract Syndrome in Turkish Population Is c.-160A>G

Balta

Erdoğan

Kiraz

et al. 2019

Tjh

View full text Add to dashboard Cite

show abstract

“…To determine if this small region was important for conferring iron-responsivity, we deleted an 18 nucleotide sequence from the predicted IRE (bases 2-25 of the predicted sequence), to create a tdTomato fitΔIRE line (Figure 5A). Deletion of the IRE has previously been shown to abolish IRE function in other transcripts (Garber and Pudek, 2014;Volz, 2021). Using this line, we assayed transcript abundance in the tdTomato fitΔIRE reporter line at 18 hours of treatment, the peak of response from the above time course (Figure 4A).…”

Section: Removal Of the Ire-like Element From The Fit 3' Utr Reduces ...mentioning

confidence: 99%

Keeping FIT: Iron-mediated post-transcriptional regulation inToxoplasma gondii

Sloan,

Scott,

Harding

2023

Preprint

View full text Add to dashboard Cite

Iron is required to support almost all life; however, levels must be carefully regulated to maintain homeostasis. Although the obligate parasiteToxoplasma gondiirequires iron, how it responds when iron becomes limiting has not been investigated. Here, we show that iron depletion triggers significant transcriptional changes in the parasite, including in pathways that require iron. Interestingly, we find that a subset ofT. gondiitranscripts contain stem-loop structures which have been associated with post-transcriptional iron-mediated regulation in other cellular systems. We validate one of these (found in the 3’ UTR of TGME49_261720) using a reporter cell line. We show that the presence of the stem-loop containing UTR is sufficient to confer accumulation at the transcript and protein levels under low iron. We show that this response is dose and time-dependent and is specific for iron. Using immunoprecipitation, we show that the metabolic enzyme aconitase is capable of binding to mRNA, includingfit, and that the presence of thefitUTR leads to stabilisation of the transcript under low iron conditions. These results demonstrate the existence of iron-mediated post-transcriptional regulation inToxoplasmafor the first time, and show that the metabolic enzyme aconitase may have an additional role as an RNA-binding protein.

show abstract

Ferritin L-subunit gene mutation and hereditary hyperferritinaemia cataract syndrome (HHCS): a case report and literature review

et al. 2021

View full text Add to dashboard Cite

A novel deletion in the iron-response element of the L-ferritin gene, causing hyperferritinaemia cataract syndrome

Cited by 3 publications

References 12 publications

A Frequent Mutation in the FTL Gene Causing Hyperferritinemia Cataract Syndrome in Turkish Population Is c.-160A>G

A Frequent Mutation in the FTL Gene Causing Hyperferritinemia Cataract Syndrome in Turkish Population Is c.-160A>G

Keeping FIT: Iron-mediated post-transcriptional regulation inToxoplasma gondii

Ferritin L-subunit gene mutation and hereditary hyperferritinaemia cataract syndrome (HHCS): a case report and literature review

Contact Info

Product

Resources

About