Publications by authors named "Z Fattahi"
Recent advances in next generation sequencing (NGS) have positioned whole exome sequencing (WES) as an efficient first-tier method in genetic diagnosis. However, despite the diagnostic yield of 35%-50% in intellectual disability (ID) many patients still remain undiagnosed due to inherent limitations and bioinformatic short-comings. In this study, we reanalyzed WES data from 159 Iranian families showing recessively inherited ID.
View Article and Find Full Text PDFMitochondria are highly dynamic organelles which undergo constant fusion and fission as part of the mitochondrial quality control. In genetic diseases and age-related neurodegenerative disorders, altered mitochondrial fission-fusion dynamics have been linked to impaired mitochondrial quality control, disrupted organelle integrity and function, thereby promoting neural dysfunction and death. The key enzyme regulating mitochondrial fission is the GTPase Dynamin-related Protein 1 (Drp1), which is also considered as a key player in mitochondrial pathways of regulated cell death.
View Article and Find Full Text PDFBackground: The study of Y-chromosomal variations provides valuable insights into male susceptibility in certain diseases like cardiovascular disease (CVD). In this study, we analyzed paternal lineage in different Iranian ethnic groups, not only to identify developing medical etiology, but also to pave the way for gender-specific targeted strategies and personalized medicine in medical genetic research studies.
Methods: The diversity of eleven Iranian ethnic groups was studied using 27 Y-chromosomal short tandem repeat (Y-STR) haplotypes from Y-filer® Plus kit.
Article Synopsis
- SNURPORTIN-1 (SNUPN) is important for transporting proteins in the cell but its exact job wasn’t known before.
- Researchers studied 18 kids with a rare type of muscular dystrophy and found that changes in the SNUPN gene might be causing their health issues.
- The study showed that the faulty SNUPN protein doesn't work properly, leading to problems in muscle cells and causing symptoms of muscular dystrophy in these kids.
Article Synopsis
- - Bardet-Biedl syndrome (BBS) is a genetic disorder with symptoms like vision problems, obesity, extra fingers or toes, kidney issues, learning disabilities, and hormonal imbalances; more research is needed to understand the genes involved.
- - Whole-exome sequencing of sixteen patients revealed that nine had eight harmful genetic variants, including a novel variant (c.471G > A) in the BBS2 gene, particularly found in six Baloch patients, which affects mRNA splicing.
- - A significant deletion in the BBS1 gene was noted in one patient, and these findings can aid in developing future diagnostic strategies for BBS, especially within the Iranian Baloch population.