High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba

Menéndez-Saínz, Caridad; González‐Quevedo, Alina; González-García, Sergio; Peña-Sánchez, Marisol; Giugliani, Roberto

doi:10.4238/2012.august.13.9

Cited by 12 publications

(6 citation statements)

References 21 publications

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“…S6 ). This finding of higher shared recent common ancestry in Eastern Cuba, and more particularly, Holguin and Las Tunas, is in agreement with the higher prevalence of Mendelian diseases that has been reported in Eastern provinces such as Holguin 44 , 45 , where endogamy was a common practice during the colonial period 46 . Conversely, Havana shows the lowest average (1.55 Mb/pair) of the shared IBD between pairs of individuals (Supplementary Table S4 ).…”

Section: Discussionsupporting

confidence: 88%

Exploring Cuba’s population structure and demographic history using genome-wide data

Fortes-Lima

Bybjerg‐Grauholm

Marín-Padrón

et al. 2018

Sci Rep

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Cuba is the most populated country in the Caribbean and has a rich and heterogeneous genetic heritage. Here, we take advantage of dense genomic data from 860 Cuban individuals to reconstruct the genetic structure and ancestral origins of this population. We found distinct admixture patterns between and within the Cuban provinces. Eastern provinces have higher African and Native American ancestry contributions (average 26% and 10%, respectively) than the rest of the Cuban provinces (average 17% and 5%, respectively). Furthermore, in the Eastern Cuban region, we identified more intense sex-specific admixture patterns, strongly biased towards European male and African/Native American female ancestries. Our subcontinental ancestry analyses in Cuba highlight the Iberian population as the best proxy European source population, South American and Mesoamerican populations as the closest Native American ancestral component, and populations from West Central and Central Africa as the best proxy sources of the African ancestral component. Finally, we found complex admixture processes involving two migration pulses from both Native American and African sources. Most of the inferred Native American admixture events happened early during the Cuban colonial period, whereas the African admixture took place during the slave trade and more recently as a probable result of large-scale migrations from Haiti.

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Section: Discussionsupporting

confidence: 88%

Exploring Cuba’s population structure and demographic history using genome-wide data

Fortes-Lima

Bybjerg‐Grauholm

Marín-Padrón

et al. 2018

Sci Rep

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“…We believe that this ndings may support our hypothesis of a founder gene p.(Trp432*) mutation among Sarawak population [21]. Holguin Province in Cuba has also been observed with highest incidence of fucosidosis with single mutation of p.(Gln422*) among its population [22].…”

Section: Discussionsupporting

confidence: 84%

Epidemiology and Genotyping of Patients with Lysosomal Storage Disease in Malaysia.

Omar¹,

Mohamed²,

Nordin³

et al. 2021

Preprint

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Background: Lysosomal storage disorders (LSD) are storage disorders involving malfunction of degradation enzymes in lysosome. More than 50 types of LSD have been discovered, which includes the group of mucopolysaccharidoses (MPS), sphingolipidoses, oligosaccharidoses, mucolipidoses, lipoprotein storage disorders, lysosomal transport defects and neuronal ceroid lipofuscinoses and others. The aims of this study were to calculate the birth prevalence and carrier frequency of LSDs in the Malaysian population; to compare our results with reported epidemiologic data from other populations, and to describe the mutation spectrum in Malaysia. From 2008 to 2017, 2.1% (92/4338) suspected patients were diagnosed with LSD. Results: The prevalence of LSD in Malaysia was 1/231,904 live births. The combined prevalence of MPS was 1/292,401 with its subtype of MPS II presented the highest calculated birth prevalence of 1/221,425. Within the group of sphingolipidoses, the combine prevalence was 1/770,777 with Fabry as the most common disorder with calculated prevalence of 1/193,203 followed by metachromatic leukodystrophy (MLD) (1/494,514). MLD is more common among people of Iban ethnicity with the prevalence of 1/6,981. Pompe and mucolipidoses type II are the less common subtypes of LSD with a prevalence of 1/1,694,634 and 1/2,229,516, respectively.Conclusion: Overall, although the prevalence of LSD in Malaysia may be underestimated, the prevalence of MPS is consistent with other reported in East Asian countries.

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“…The disease is inherited in an autosomal-recessive manner and no more than ∼120 cases worldwide have been reported since it was initially described in the late 1960s ( Durand et al, 1968 ; Willems et al, 1991 ). Some studies, however, indicate that its incidence is much higher than reported, particularly in some regions of Southern Italy, some parts of Cuba, and Tunisia, as well as in some populations of Mexican-Indian origin in Arizona and Colorado of the United States ( Ben Turkia et al, 2008 ; Menéndez-Sainz et al, 2012 ; Willems et al, 1991 ).…”

Section: Introductionmentioning

confidence: 91%

A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease

Wolf

Damme

D’Hooge

et al. 2016

Disease Models &Amp; Mechanisms

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Fucosidosis is a rare lysosomal storage disorder caused by the inherited deficiency of the lysosomal hydrolase α-L-fucosidase, which leads to an impaired degradation of fucosylated glycoconjugates. Here, we report the generation of a fucosidosis mouse model, in which the gene for lysosomal α-L-fucosidase (Fuca1) was disrupted by gene targeting. Homozygous knockout mice completely lack α-L-fucosidase activity in all tested organs leading to highly elevated amounts of the core-fucosylated glycoasparagine Fuc(α1,6)-GlcNAc(β1-N)-Asn and, to a lesser extent, other fucosylated glycoasparagines, which all were also partially excreted in urine. Lysosomal storage pathology was observed in many visceral organs, such as in the liver, kidney, spleen and bladder, as well as in the central nervous system (CNS). On the cellular level, storage was characterized by membrane-limited cytoplasmic vacuoles primarily containing water-soluble storage material. In the CNS, cellular alterations included enlargement of the lysosomal compartment in various cell types, accumulation of secondary storage material and neuroinflammation, as well as a progressive loss of Purkinje cells combined with astrogliosis leading to psychomotor and memory deficits. Our results demonstrate that this new fucosidosis mouse model resembles the human disease and thus will help to unravel underlying pathological processes. Moreover, this model could be utilized to establish diagnostic and therapeutic strategies for fucosidosis.

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High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba

Cited by 12 publications

References 21 publications

Exploring Cuba’s population structure and demographic history using genome-wide data

Exploring Cuba’s population structure and demographic history using genome-wide data

Epidemiology and Genotyping of Patients with Lysosomal Storage Disease in Malaysia.

A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease

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