Prevalence of cardiovascular diseases and essential hypertension in the desert area of Thar

Globally essential hypertension and cardiovascular diseases are associated with high morbidity and mortality due to unhealthy life styles and lack of preventative measures. In some ethnicities these factors are insignificant due to genetic makeup favoring protection against these diseases. To study the prevalence of risk factors for essential hypertension in the Pakistani population of a desert area of Thar. A random cross sectional study was done from 2002 to 2008 on 276 subjects [126 males, 150 females] in Islamkot-Thar, the desert area of Sindh. Data for anthropometric, demographic, socioeconomic, dietary pattern, basal metabolic index, body fat content, antihypertensive use and psychosocial factors were recorded. Three consecutive readings for blood pressure were taken in 15 minutes. Any systolic blood pressure of over 140mm Hg and diastolic of over 90mm Hg in all 3 readings was taken as hypertension. Study population was divided in hypertensives [patients] and non hypertensives [controls]. Data were analyzed in two steps clinically, descriptively and inferentially using SPSS version 14, first for entire population and second by breaking this population into two sub ethnicities having no consanguinity in them. Hypertension was seen in [10.9%] cases while 88.4% were normotensive. Hypertensive group showed increased association of risk factors e.g. male gender, old age, marriage, moderately high monthly income, lack of exercise, low leisure time activity, prolonged tobacco exposure, parental history, high basal metabolic index profile, intermediate body fat content and stressful job. However, this group showed lack of association of factors like alcohol, extra salt, scarce education and stress. Decrease association with saturated fat was seen as compared to oil [20.7% versus 79.3%]. Subethnicity analysis of the two communities, both having no consanguinity showed one group to be suffering from essential hypertension [17%] and its comorbids like diabetes mellitus [11.4%], asthma [6.5%] and stroke [0.6%] while the other group lacked all these findings. Despite similar coexisting conditions different genetic makeups predispose one subethnicity to normal and the other to hypertensive phenotype. Molecular studies on this population are needed to reconfirm the present clinical conclusion

cradle of the Delta F508 mutation

Cystic fibrosis [CF] is the most common autosomal recessive disorder caused due to mutation/s in the CFTR gene. The most common mutation in CFTR worldwide is delta F508 and cystic fibrosis genetic analysis consortium revealed that this mutation is responsible for approximately 66% of all CF chromosomes in the world. Studies looking at the DNA polymorphic haplotypes created by CF linked markers suggest that delta F508 has a single origin as this mutation has been found associated exclusively with one marker haplotype. Despite a high prevalence of this mutation in CF patients in northern parts of Europe, findings suggest that this mutation was not spread by Europeans but by a group that is speculated to have originated in the Middle East or a more eastern region in Asia [most likely subcontinent]. Over here we have given a brief introduction to cystic fibrosis and classification of CFTR mutations and have further elaborated on the crucial issue about the spread of the delta F508 mutation. We have reviewed findings that give clues about the origin of this mutation from the Baluch ethnicity residing in Pakistan

[3120+1kbdel8.6kb]+[p.N1303K] Genotype in an Emirati cystic fibrosis patient: indication of a founder mutation in Palestinian Arabs

Cystic fibrosis [CF] is the most common life-limiting autosomal recessive disorder in Caucasian population. The disease was initially considered to be rare in Middle Eastern countries. 95% of CF in Emirati families is due to two mutations only ' p.S549R[T>G] and p.F508del. We report here the case of a patient referred to CF and Respiratory Clinic at Tawam Hospital for cystic fibrosis transmembrane regulator [CFTR] gene screening to ascertain the diagnosis of CF, who was found to carry a unique genotype, signifying the importance of retrieving ancestral histories of patients with monogenic disorders

identification of new polymorphism in the adrenoleukodystrophy gene permits genetic testing of the disease in the UAE

X-linked adrenoleukodystrophy [ALD] affects 1/20,000 males either as cerebral ALD in childhood or as adrenomyeloneuropathy in adults. ALD, the most frequent peroxisomal disorder is a severe neurodegenerative disease associated with an impairment of very long chain fatty acid - oxidation. The recent characterization of the ALD gene [this gene is 21 kilobase pairs long and it encodes a 745 amino acid protein] will permit the identification of mutations in ALD patients, which will allow diagnosis of the disease by genetic testing. To that end, we have designed a pilot project that allowed us to screen 5 of the 10 exons of the ALD gene, using a strategy based upon the technique of denaturing gradient gel electrophoresis coupled to asymmetric amplication DNA sequencing. We have identified the first polymorphism of the ALD gene; it is due to a G-to-A silent mutation in codon 506 [leucine] of the gene [corresponding to nucleotide 1934] and is therefore designated L506L. This polymorphism allowed us to follow the cosegregation of the disease allele in the family of an affected boy of Pakistani origin who had been referred to Tawam Hospital. Moreover, the frequency of L506L is 15% in the U.A.E. population; this polymorphism will therefore be useful for genetic counselling in the country

Cystic fibrosis in the United Arab Emirates: II-molecular genetic analysis

In order to identify the genetic mutations responsible for cystic fibrosis among United Arab Emirate nationals, we designed a pilot project that allowed the screening of 17 out of the 27 exons of the cystic fibrosis transmembrane conductance regulator gene [this gene encodes a 1480 amino acid long protein]. In order to detect rapidly any sequence change in the corresponding gene regions, we chose a strategy that was based on the techniques of denaturing gradient gel electrophoresis combined with asymmetric amplification DNA sequencing. A common mutation called the delta F 508 deletion, which accounts for 70% of cystic fibrosis chromosomes screened worldwide, was absent from the eight affected families. We discovered, however, that a T to G mutation resulting in the replacement of a serine by an arginine at position 549 of the protein [S549R] accounts for 75% of cystic fibrosis chromosomes studied [12 out of the 16 chromosomes that were screened in this study]. We also identified several polymorphisms that will be useful in the study of the co-segregation of deleterious alleles in most or all families affected by cystic fibrosis in the country