HFE gene mutations and Wilson's disease in Sardinia

Sorbello, Orazio; Sini, Margherita; Civolani, Alberto; Demelia, Luigi

doi:10.1016/j.dld.2009.06.012

Cited by 18 publications

(17 citation statements)

References 24 publications

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“…The present study area close to Lapland may fulfill the criteria of "regional isolation" and such an area "has had very favorable possibilities for homozygosity" [28]. This background may also explain the presence of WND in Mediterranean [6][7][8] or North Atlantic islands [9,10] often with characteristic mutations reflecting their demographic history. The authors hypothesized that the patients would most likely be homozygous for a common mutation as was found in Iceland [9].…”

Section: Discussionmentioning

confidence: 96%

“…Such a coinheritance seems to be surprisingly rare, as only five persons are reported with both diseases [14][15][16][17][18]. It is uncertain whether the coinheritance of the HFE mutation H63D in the patient affected her phenotype, which has been reported from Sardinia [6].…”

Section: Introductionmentioning

confidence: 92%

“…Most cases of HH are homozygous for the HFE C282Y mutation, which is a common mutation having a north European origin, reaching high frequencies in isolated areas due to local founder effects [4,5]. A similar background may explain the high frequencies of WND in Mediterranean or Atlantic islands often with local, characteristic founder mutations [6][7][8][9][10]. Extensive pedigree studies have been made to find a local founder [11,12] and in Iceland all WND patients seemed to share a common origin and also one common mutation [9].…”

Section: Introductionmentioning

confidence: 99%

“…Another objective was to determine whether these patients might have coinherited hemochromatosis, and whether this had affected the phenotype of their WND [6].…”

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Common local founder effects for Wilson's disease and hereditary hemochromatosis; mutation studies of a large family

Olsson

Wålinder

Kindmark

2012

Scandinavian Journal of Gastroenterology

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Section: Discussionmentioning

confidence: 96%

Section: Introductionmentioning

confidence: 92%

Section: Introductionmentioning

confidence: 99%

“…Another objective was to determine whether these patients might have coinherited hemochromatosis, and whether this had affected the phenotype of their WND [6].…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Common local founder effects for Wilson's disease and hereditary hemochromatosis; mutation studies of a large family

Olsson

Wålinder

Kindmark

2012

Scandinavian Journal of Gastroenterology

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“…Iron overload was also observed in patients with WD. [4] Recent studies showed that WD might be complicated by high iron concentrations in the basal ganglia of the brain. [5] However, there is still no effective way to assess the location and the concentration of iron and copper in the brain.…”

Section: Introductionmentioning

confidence: 99%

Characterizing brain mineral deposition in patients with Wilson disease using susceptibility-weighted imaging

Zhou¹,

Qin²,

et al. 2014

Neurol India

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Injury factors and pathological features of toxic milk mice during different disease stages

Zhou

Chen

et al. 2019

Brain and Behavior

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ObjectiveTo evaluate different injury factors and pathological characteristics of the brain at different disease stages in toxic milk (TX) mice, an animal model of Wilson's disease (WD).MethodsThirty TX mice (10 each at 3, 6 and 12 months old) and 30 age‐matched C57 mice were used in this study. Corrected phase (CP) values were determined from susceptibility‐weighted images. Myelin content was determined by measuring inhibition optical density values of Luxol fast blue‐stained sections. Neurofilament protein 68 kDa (NF68), β‐amyloid precursor protein (β‐APP), and myelin basic protein (MBP) levels, as well as copper and iron content, in brain nuclei of the TX mouse were evaluated. Gene amplification ratios for catalase (CAT), GSH peroxidase (GSH‐PX), nitric oxide synthase (NOS), and superoxide dismutase (SOD) in mouse brain were also determined.ResultsCompared with C57 mice, neuronal cell counts were decreased in 12‐months‐old TX mice (p = .011). Myelin content was decreased in the lenticular nucleus (p = .029), thalamus (p = .030), and brainstem (p = .034) of 6‐months‐old TX mice; decreases in the corresponding nuclei (p = .044, .037, and .032, respectively) were also found in 12‐months‐old TX mice. MBP values were lower in the lenticular nucleus and thalamus (p = .027 and .016, respectively) of 6‐months‐old TX mice and in the corresponding nuclei (p = .24 and .040) of 12‐months‐old TX mice. NF‐68 values were lower in the lenticular nucleus and thalamus (p = .034 and .037, respectively) of 6‐months‐old TX mice and in the corresponding nuclei (p = .006 and .012) of 12‐months‐old TX mice. β‐APP values were higher in the thalamus of 6‐months‐old (p = .037) and 12‐months‐old (p = .012) TX mice. Iron content was higher in the lenticular nucleus, thalamus, and cerebellum (p = .044, .038, and .029, respectively) of 6‐months‐old TX mice and in the corresponding nuclei (p = .017, .024, and .029) of 12‐months‐old TX mice. The NOS gene amplification multiple was higher (p = .039), whereas the SOD1 gene amplification multiple was lower (p = .041) in 12‐months‐old TX mice. There was no correlation between metal content or oxidation index and pathological index.ConclusionsThe pathological characteristics of the brains of TX mice may differ at different ages. Different pathogenic factors, including copper and iron deposition and abnormal oxidative stress, are present at different stages.

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HFE gene mutations and Wilson's disease in Sardinia

Cited by 18 publications

References 24 publications

Common local founder effects for Wilson's disease and hereditary hemochromatosis; mutation studies of a large family

Common local founder effects for Wilson's disease and hereditary hemochromatosis; mutation studies of a large family

Characterizing brain mineral deposition in patients with Wilson disease using susceptibility-weighted imaging

Injury factors and pathological features of toxic milk mice during different disease stages

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