Wolfram syndrome (WS) is a rare, single-gene disease with an autosomal recessive pattern of inheritance. Within the first ten years, most patients experience diabetes mellitus and optic atrophy, followed by diabetes insipidus, sensorineural deafness and psychiatric disorders in the next decade [1]. The most common type is Wolfram syndrome type 1 (WS-1) which results from mutations in the WFS1 gene. Wolfram syndrome type 2 (WS-2) is linked to mutations in the CISD2 gene although its protein functions and mechanisms are not well understood. The WFS1 gene codes for a protein called wolframin which is expressed in the heart, placenta, lung and brain –playing a vital role as it maintains homeostasis in the endoplasmic reticulum of the pancreatic
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conducted a study that sequenced WFS1 coding regions in Iranian Wolfram syndrome pedigrees. They analyzed the WFS1 gene in 12 patients and their parents from 10 Iranian WS families. Their first aim was to investigate the spectrum of WFS1 in their population and to find a possible genotype-phenotype correlation for WS. Their secondary aim was to provide a possible predicative molecular genetic screening for WS families. The materials and methods consisted of a DNA extraction from peripheral blood samples. These were amplified using PCR in order to sequence the WFS1 gene on an automated DNA sequencer. They established an amplification refractory mutation system, having two complementary reactions using three primers in each and then conducted a comparative genomic analysis using the Sequencher software …show more content…
In this article, the authors observed that minimal mutations were characterized in Iranian patients, recognizing the lack of information regarding the carrier frequency and the prevalence of WFS1 mutations in Iran [1]. To further understand the symptoms and genetic basis of WS, it is critical to fully analyze the mutations involved with the genes involved. The main reason this study was conducted on a certain population is due to the genetic background of the area. The different ethnic groups in this population, specifically the Kurd, Turk and Fars, are often involved in consanguineous marriages [1]. This study could be expanded to a multi-site study in different countries and ethnic backgrounds to identify more mutations in the WSF1 gene, as it may have different genetic bases depending on ethnic background. Through finding more specific mutations we can obtain a complete picture of what is triggering WS or specifically, matching phenotypes to the genetic malfunction involved and subsequently providing adequate treatment [1]. This study could also be further expanded to study the CISD2 gene in WS type 2 where it is currently highly focused on CISD2 gene mutations causing the mitochondrial to break-down [2]. In addition to a multi-site study, this experimental design could also be translated to the identifying novel mutations in the CISD2
conducted a study that sequenced WFS1 coding regions in Iranian Wolfram syndrome pedigrees. They analyzed the WFS1 gene in 12 patients and their parents from 10 Iranian WS families. Their first aim was to investigate the spectrum of WFS1 in their population and to find a possible genotype-phenotype correlation for WS. Their secondary aim was to provide a possible predicative molecular genetic screening for WS families. The materials and methods consisted of a DNA extraction from peripheral blood samples. These were amplified using PCR in order to sequence the WFS1 gene on an automated DNA sequencer. They established an amplification refractory mutation system, having two complementary reactions using three primers in each and then conducted a comparative genomic analysis using the Sequencher software …show more content…
In this article, the authors observed that minimal mutations were characterized in Iranian patients, recognizing the lack of information regarding the carrier frequency and the prevalence of WFS1 mutations in Iran [1]. To further understand the symptoms and genetic basis of WS, it is critical to fully analyze the mutations involved with the genes involved. The main reason this study was conducted on a certain population is due to the genetic background of the area. The different ethnic groups in this population, specifically the Kurd, Turk and Fars, are often involved in consanguineous marriages [1]. This study could be expanded to a multi-site study in different countries and ethnic backgrounds to identify more mutations in the WSF1 gene, as it may have different genetic bases depending on ethnic background. Through finding more specific mutations we can obtain a complete picture of what is triggering WS or specifically, matching phenotypes to the genetic malfunction involved and subsequently providing adequate treatment [1]. This study could also be further expanded to study the CISD2 gene in WS type 2 where it is currently highly focused on CISD2 gene mutations causing the mitochondrial to break-down [2]. In addition to a multi-site study, this experimental design could also be translated to the identifying novel mutations in the CISD2