Mediterranean Families Research Articles

Family Meals, Conviviality, and the Mediterranean Diet among Families with Adolescents

Two aspects that characterize the Mediterranean diet (MD) are “what” and “how” we eat. Conviviality relates to “how” we eat and to the pleasure of sharing meals with significant people. The most studied concept is “family meals”, which includes conviviality, which involves “enjoying” family meals. Given the lack of research on convivial family meals in Mediterranean countries, the purpose of this qualitative study was to analyze the family meal representations and practices of families with 12- to 16-year-old adolescents to assess whether they responded to a pattern of conviviality, and to examine their association with MD adherence. Twelve semi-structured interviews were conducted and food frequency and family meal questionnaires were administered. A food pattern analysis was carried out and digital photos of meals were analyzed to examine eating habits and meal composition, respectively. The findings showed that parents believed family meals are a space for socialization and communication. Items relating to the conviviality of family meals identified in the study were meal frequency, meals at the table, lack of digital distractions, pleasant conversations, and time spent on family meals. Attention should be paid to conviviality in Mediterranean families when designing multi-approach strategies to promote healthy eating among adolescents.

Three novel genes tied to mandibular prognathism in eastern Mediterranean families.

Mandibular prognathism (MP) is subject to major polygenic influence and segregates within families in autosomal dominance with variable expressivity and incomplete penetrance. We aimed to identify the inheritance pattern and genes and loci involved in the development of MP in Mediterranean families and to evaluate the dentoskeletal characteristics of affected individuals. Fifty-one eastern Mediterranean families with individuals affected by MP were identified. Data and biospecimens were collected from 14 of the families, including clinical examination, lateral cephalography (on subjects with Class III malocclusion), and 5mL blood drawn from consenting affected and nonaffected relatives. Next-generation sequencing (NGS)was performed on 8 families (7 Lebanese, 1 Lebanese/Syrian), including large numbers of affected individuals over many generations and severe conditions, with the use of whole-exome sequencing. Most pedigrees suggested autosomal-dominant inheritance with an equal number of affected male and female individuals. Affected individuals had macrognathic and prognathic mandibles with dentoalveolar compensation. Genetic screening did not correspond with previously reported MP-linked genes, but yielded 3 novel genes (C1orf167, NBPF8, NBPF9) on chromosome 1 potentially responsible for mandibular development and macrognathism. In this first genetic study with the use of NGS on the largest reported number of families with MP, novel genes (C1orf167, NBPF8, NBPF9) were associated with familial MP in the eastern Mediterranean population.

Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families.

Recent studies show a susceptibility locus (DFNB1) responsible for non-syndromic neurosensory autosomal-recessive deafness (NSRD) mapping to the pericentromeric region of chromosome 13q. In order to better understand the frequency with which DFNB1 is the gene for deafness in our patient population and the role of DFNB1 in Caucasians, we performed a genetic linkage study with four microsatellite markers linked to DFNB1 in a total of 48 independent Mediterranean families, of which 30 and 18 were of Italian and Spanish descent, respectively. A maximum two-point lod score of 7.28 was found with marker D13S115 at a recombination frequency of theta 0.1. Significant lod scores were also obtained for D13S143, D13S292 and D13S175. Genetic heterogeneity was confirmed using the HOMOG program which indicated absence of linkage to DFNB1 in approximately 21% of the sample. This study clearly demonstrates that DFNB1 plays an important role in 79% of Mediterranean families with NSRD. Furthermore, results from multipoint analysis predict that the DFNB1 gene maps between markers D13S175 and D13S115 which are separated by approximately 14.2 cM.

A 10-year survey on prevalence and occurrence rate of multi-drug resistant Mycobacterium tuberculosis in Latin American and Mediterranean Families: A Systematic review and meta-analysis

A 10-year survey on prevalence and occurrence rate of multi-drug resistant Mycobacterium tuberculosis in Latin American and Mediterranean Families: A Systematic review and meta-analysis

Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families.

Charcot-Marie-Tooth disease type 4H (CMT4H) is an autosomal recessive demyelinating subtype of peripheral enuropathies caused by mutations in the FGD4 gene. Most CMT4H patients are in consanguineous Mediterranean families characterized by early onset and slow progression. We identified two CMT4H patients from a Korean CMT cohort, and performed a detailed genetic and clinical analysis in both cases. Both patients from nonconsanguineous families showed characteristic clinical manifestations of CMT4H including early onset, scoliosis, areflexia, and slow disease progression. Exome sequencing revealed novel compound heterozygous mutations in FGD4 as the underlying cause in both families (p.Arg468Gln and c.1512-2A>C in FC73, p.Met345Thr and c.2043+1G>A (p.Trp663Trpfs*30) in FC646). The missense mutations were located in highly conserved RhoGEF and PH domains which were predicted to be pathogenic in nature by in silico modeling. The CMT4H occurrence frequency was calculated to 0.7% in the Korean demyelinating CMT patients. This study is the first report of CMT4H in Korea. FGD4 assay could be considered as a means of molecular diagnosis for sporadic cases of demyelinating CMT with slow progression.

Аналіз синантропної флори Яворівського національного природного парку

Synantropic flora of Yavoriv National Nature Park located within the Ukrainian Roztochia was studied. Flora contains 225 species which belong to 147 genera and 44 families. Mediterranean families occupy first places in the list of the most rich in synantropic species families Аsteraceae , Lamiaceae, Brassicaceae, Fabaceae, Аpiaсеае . The role of the boreal families Poaceae , Rosaceae and Ranunculaceae which are common in the park’s flora decreases. Synantropic species are not observed among the native members of families Cyperaceae , Liliaceae, Orchidaceae . Such proportion of synantropic families can be accounted by considerable xerothermy of antropogenically transformed ecotops of the park in which these synantropic species occur. In the synantropic flora of Yavoriv National Nature Park, the autochthonous fraction comprising 43 species, is a dominating one. Among the apophytes, the number of evapophytes and gemiapophytes (50 and 53 species, respectively) is almost equal. The last 40 species are inconstant apophytes. Allochtonous fraction is less than autochthonic one. It contains 82 species of which 59 species are archeophytes and 24 are kenophytes. A large number of apophytes and archeophytes in the synantropic flora which have been well naturalized under the conditions of the park, as well as many one- and few-species families indicate great variety, stability, its ancient formation, and low level of synantropization.

Identification and molecular characterization of a novel 55‐kb deletion recurrent in southern Italy: the Italian Gγ(Aγδβ)°‐thalassemia

To characterize the molecular basis of a β-thalassemia defect in subjects with mild microcytosis associated with normal Hb A2 and increased levels of Hb F. Six subjects from three apparently unrelated families from Campania (southern Italy) have been investigated using DNA restriction analysis, inverse PCR, cloning, sequencing, multiplex ligation-dependent probe amplification (MLPA), quantitative real-time PCR, and gap-PCR. We have identified a novel 55-kb β-globin gene cluster deletion in three unrelated families: the Italian (G) γ((A) γδβ)°-thalassemia. This deletion removes most of the β-globin cluster. The 5' breakpoint was within the (A) γ-globin exon 2, and the 3' breakpoint was within a 160-bp palindrome: the breakpoint-flanking regions present a microhomology (5'-TGGG-3') that, together with the palindromic structure, may have contributed to the recombination. Large deletions of β-globin gene cluster are usually found in single families. Here, we report about the novel Italian (G) γ((A) γδβ)°-thalassemia we have found in three families. Twenty years ago, the characterization of the first family was challenging, whereas that of the other families has taken advantage of nowadays techniques. The relatively high frequency of this novel deletion in southern Italy suggests that it should be tested, together with the Sicilian (δβ)°-thalassemia, in Italian and Mediterranean families with microcytosis, normal Hb A2, and increased Hb F levels.

I112M SOD1 mutation causes ALS with rapid progression and reduced penetrance in four Mediterranean families

We evaluated a possible genotype-phenotype correlation and looked for a founder effect in four Mediterranean families carrying the I112M SOD1 mutation. The structural characteristics of the mutated protein were also analysed. Clinical data of FALS subjects from four families were evaluated. Mutational analysis of the SOD1 gene was carried out by direct sequencing. A haplotype study was carried out using 11 polymorphic markers flanking the SOD1 gene. Structural analysis was performed by means of homology modelling and molecular graphics methods. The clinical pattern of 17 FALS patients was characterized by prevalent spinal onset, mean age at onset of 47.1 years and mean duration of 20.7 months. Several obligate carriers were observed. These findings indicate that the I112M mutation is consistently associated with a uniform, fast-progressing phenotype with reduced penetrance of the disease. The haplotype analysis did not show a common haplotype among the Spanish families and the Italian family; however, a possible common founder could be hypothesized for Spanish families. From a structural viewpoint, mutation at codon 112 seems to confer a severe phenotype, probably related to altered protein functionality.

The Most Predominant Spoligopatterns of Mycobacterium tuberculosis Isolates among Iranian, Afghan-Immigrant, Pakistani and Turkish Tuberculosis Patients: A Comparative Analysis

Background: The aim of this study was to identify prevalent spoligopatterns of Mycobacterium tuberculosis (MTB) strains within Iran and its neighboring countries. Methods: The spacer oligonucleotide typing (spoligotyping) was performed on 1,742 MTB strains isolated from Iranian and Afghan patients. Subsequently, these results were compared with published results of Pakistan and Turkey. Results: Based on the international spoligotyping database T, Central Asian Strain (CAS), East African-Indian and Latin American and Mediterranean families were prevalent in the region. T was dominant amongIranian (32.3%) and Turkish (36.5%), whereas CAS was more prevalent among Pakistani (61.3%) and Afghan-immigrant (27.4%) TB patients. Conclusion: The majority of strains isolated from Pakistan and Afghanistan belonged to ancient MTB genotypes (principal genetic group, PGG, I). In contrast, in Turkey there was prevalence of modern TB (PGG II and III), whereas in Iran, the prevalence of ancient and modern TB was almost equal. Therefore, Iran may be considered as the connecting geographical location between ancient and modern TB.

Rising temperature and development in dragonfly populations at different latitudes

Summary1. For modelling the future ecological responses to climate change, data on individual species and on variation within and between populations from different latitudes are required.2. We examined life cycle regulation and growth responses to temperature in Mediterranean and temperate populations of a widespread European odonate, Orthetrum cancellatum. In an experiment, offspring from individual females from different parts of the range were kept separately to elucidate differences between families.3. The experiment was run outdoors at 52°N at a natural photoperiod for almost a year. We used four temperature regimes, ambient (i.e. following local air temperature) and ambient temperature increased by 2, 4 and 6 °C, to mimic future temperature rise. A mathematical model was used to categorise the type of seasonal regulation and estimate parameters of the temperature response curve.4. Growth rate varied significantly with temperature sum, survival and geographic origin, as well as with family. Offspring of all females from the temperate part of the range had a life cycle with a 12 h day‐length threshold necessary to induce diapause (i.e. diapause was induced once day length fell below 12 h). By contrast, Mediterranean families had a 10 h threshold or had an unregulated life cycle allowing winter growth. The temperature response did not significantly differ between populations, but varied between families with a greater variation in the optimum temperature for growth in the Mediterranean population.5. The variation in seasonal regulation leads to a diversity in voltinism patterns within species, ranging from bivoltine to semivoltine along a latitudinal gradient. Given that the type of seasonal regulation is genetically fixed, rising temperatures will not allow faster than univoltine development in temperate populations. We discuss the consequences of our results in the light of rising temperature in central Europe.

Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity

We studied 20 Mediterranean families (40 patients) with autosomal recessive hereditary spastic paraplegia and thin corpus callosum (ARHSP-TCC, MIM 604360) to characterize their clinical and genetic features. In six families (17 patients) of Algerian Italian, Moroccan, and Portuguese ancestry, we found data consistent with linkage to the SPG11 locus on chromosome 15q13-15, whereas, in four families (nine patients of Italian, French, and Portuguese ancestry) linkage to the SPG11 locus could firmly be excluded, reinforcing the notion that ARHSP-TCC is genetically heterogeneous. Patients from linked and unlinked families could not be distinguished on the basis of clinical features alone. In SPG11-linked kindred, haplotype reconstruction allowed significant refinement to 6 cM, of the minimal chromosomal interval, but analysis of two genes (MAP1A and SEMA6D) in this region did not identify causative mutations. Our findings suggest that ARHSP-TCC is the most frequent form of ARHSP in Mediterranean countries and that it is particularly frequent in Italy.

Multiple QTLs influencing triglyceride and HDL and total cholesterol levels identified in families with atherogenic dyslipidemia

We conducted a genome-wide scan using variance components linkage analysis to localize quantitative-trait loci (QTLs) influencing triglyceride (TG), high density lipoprotein-cholesterol (HDL-C), low density lipoprotein-cholesterol, and total cholesterol (TC) levels in 3,071 subjects from 459 families with atherogenic dyslipidemia. The most significant evidence for linkage to TG levels was found in a subset of Turkish families at 11q22 [logarithm of the odds ratio (LOD)=3.34] and at 17q12 (LOD=3.44). We performed sequential oligogenic linkage analysis to examine whether multiple QTLs jointly influence TG levels in the Turkish families. These analyses revealed loci at 20q13 that showed strong epistatic effects with 11q22 (conditional LOD=3.15) and at 7q36 that showed strong epistatic effects with 17q12 (conditional LOD=3.21). We also found linkage on the 8p21 region for TG in the entire group of families (LOD=3.08). For HDL-C levels, evidence of linkage was identified on chromosome 15 in the Turkish families (LOD=3.05) and on chromosome 5 in the entire group of families (LOD=2.83). Linkage to QTLs for TC was found at 8p23 in the entire group of families (LOD=4.05) and at 5q13 in a subset of Turkish and Mediterranean families (LOD=3.72). These QTLs provide important clues for the further investigation of genes responsible for these complex lipid phenotypes. These data also indicate that a large proportion of the variance of TG levels in the Turkish population is explained by the interaction of multiple genetic loci.

Audiometric evaluation of carriers of the connexin 26 mutation 35delG

Mutation in a gap junction protein gene (GJB2 also named connexin 26) is a major cause of autosomal recessive congenital deafness, which is responsible for about 80% of the cases in Mediterranean families, but actually little is known about the influence of GJB2 mutations on the hearing of obligate carriers. We examined GJB2 35delG mutation carrier individuals to test the possible presence and incidence of audiometric abnormalities among carriers of 35delG mutations. Tonal audiometric analysis was performed on a 35delG mutation carrier group (H) and on a non-carrier control group (N). Audiometric evaluations in the control group showed the presence of thresholds within normal limits at all frequencies, while carriers of 35delG mutations presented a decrease of hearing principally at 6,000 and 8,000 Hz. The difference at 6,000 and 8,000 Hz between groups H and N is statistically significant.

Dropout and Downward Mobility in the Educational Career: An Event-History Anaylsis of Ethnic Schooling Differences in the Netherlands

While many aspects of educational careers have been examined ill the literature on ethnic minorities, such as truancy, turnover and grades, downward mobility has rarely been studied. Using data on more than 10,000 students who entered secondary school in The Netherlands in 1989, we develop an event-history model for secondary school careers and we use this model to analyse the determinants of dropout and downward mobility simultaneously. Our findings show that students from Mediterranean and Caribbean immigrant families are about 3 times as likely to drop out from secondary school without a degree compared to Dutch children. They are also more likely to be downwardly mobile during their secondary school career, but this differential is weaker Compositional differences with respect to individual ability and parental resources explain a large part of these differences. When holding constant parental resources and individual ability, ethnic students are less likely to experience downward mobility than Dutch students. In other words, when there is failure in the school career Dutch children are more likely to follow the route of downward mobility whereas children from ethnic minorities are more likely to drop out altogether. The multitrack nature of the Dutch educational system thus may have a negative impact on ethnic inequality.

Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.

Pendred syndrome is an autosomal-recessive disorder characterized by congenital sensorineural hearing loss combined with goiter. This disorder may account for up to 10% of cases of hereditary deafness. The disease gene (PDS/SLC26A4) has been mapped to chromosome 7q22-q31 and encodes a chloride-iodide transport protein. Mutations in this gene are also a cause of non-syndromic autosomal recessive hearing impairment (DFNB4). We have analyzed the PDS/SLC26A4 gene in Spanish and Italian families and we have detected five novel mutations (X781W, T132I, IVS2-2A>G, Y556H and 406del5).

Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.

Pendred syndrome is an autosomal-recessive disorder characterized by congenital sensorineural hearing loss combined with goiter. This disorder may account for up to 10% of cases of hereditary deafness. The disease gene (PDS/SLC26A4) has been mapped to chromosome 7q22-q31 and encodes a chloride-iodide transport protein. Mutations in this gene are also a cause of non-syndromic autosomal recessive hearing impairment (DFNB4). We have analyzed the PDS/SLC26A4 gene in Spanish and Italian families and we have detected five new mutations (X871M, T132I, IVS1-2A>G, Y556H and 406del5).

Hereditary Ataxias

Hereditary Ataxias

Connexin-26 mutations in sporadic and inherited sensorineural deafness

Hearing impairment affects one infant in 1000 and 4% of people aged younger than 45 years. Congenital deafness is inherited or apparently sporadic. We have shown previously that DFNB1 on chromosome 13 is a major locus for recessive deafness in about 80% of Mediterranean families and that the connexin-26 gene gap junction protein beta2 (GJB2) is mutated in DFNB1 families. We investigated mutations in the GJB2 gene in familial and sporadic cases of deafness. We obtained DNA samples from 82 families from Italy and Spain with recessive non-syndromic deafness and from 54 unrelated participants with apparently sporadic congenital deafness. We analysed the coding region of the GJB2 gene for mutations. We also tested 280 unrelated people from the general populations of Italy and Spain for the frameshift mutation 35delG. 49% of participants with recessive deafness and 37% of sporadic cases had mutations in the GJB2 gene. The 35delG mutation accounted for 85% of GJB2 mutations, six other mutations accounted for 6% of alleles, and no changes in the coding region of GJB2 were detected in 9% of DFNB1 alleles. The carrier frequency of mutation 35delG among people from the general population was one in 31 (95% CI one in 19 to one in 87). Mutations in the GJB2 gene are a major cause of inherited and apparently sporadic congenital deafness. Mutation 35delG is the most common mutation for sensorineural deafness. Identification of 35delG and other mutations in the GJB2 gene should facilitate diagnosis and counselling for the most common genetic form of deafness.

Rapid sizing of polymorphic microsatellite markers by capillary array electrophoresis

Genetic mapping and DNA sequencing projects could potentially be completed more rapidly by using capillary array electrophoresis (CAE) systems running 48–96 capillaries simultaneously. Currently, multiplex polymerase chain reaction (PCR) and multicolor fluorescent dye-labeling strategies are used to generate DNA profiles containing 18–24 genotypes per sample. By using 4-color fluorescence detection and these multiplex PCR strategies, a CAE system has the capacity to generate up to 5.5 million genotypes per year. CAE offers extremely fast, high-resolution separation of DNA and more automated sample processing than conventional systems because the labor-intensive slab-gel pouring and sample-loading steps are eliminated. We used a prototype CAE system in an ongoing linkage analysis study of inherited deafness in Mediterranean families. CA-repeat markers linked to deafness susceptibility genes on chromosomes 7, 11 and 13 were analyzed and DNA profiles generated which contain 6 markers per color. Fragment sizes of over 28 000 short tandem repeat alleles and 3200 CA-repeat alleles have been determined by CAE. An average sizing precision of ±0.12 base pairs (bp) for fragments up to 350 bp was realized in 1-h runs. In addition, a versatile non-denaturing matrix was used to separate DNA sizing standards, restriction digests, and multiplex PCR samples. Application of this matrix to Duchenne muscular dystrophy exon deletion screening is also described. These CAE approaches should facilitate rapid genotyping of microsatellite markers and subsequent identification of disease-causing mutations.

Linkage of DFNB1 to Non-Syndromic Neurosensory Autosomal-Recessive Deafness in Mediterranean Families

Linkage of DFNB1 to Non-Syndromic Neurosensory Autosomal-Recessive Deafness in Mediterranean Families