Gene Reports最新文献

{"title":"Exploitation of novel drought responsive EST-SSR markers in tetraploid cotton (Gossypium hirsutum L.)","authors":"Aditi Dwivedi ,&nbsp;KiranKumar P. Suthar ,&nbsp;Rasmieh Hamid ,&nbsp;Komal G. Lakhani ,&nbsp;Diwakar Singh ,&nbsp;Sushil Kumar ,&nbsp;Rajkumar B K ,&nbsp;Vijay Vekariya ,&nbsp;Praveen Prajapat","doi":"10.1016/j.genrep.2024.102097","DOIUrl":"10.1016/j.genrep.2024.102097","url":null,"abstract":"<div><div>Drought is a major environmental challenge that affects the quality and yield of cotton fibres. The aim of the present study was to develop drought-responsive EST-SSRs from cotton transcriptome data. A total of 1946 functionally annotated EST-SSR markers were developed, with tri-nucleotide SSR repeats being the most abundant (40.7 %), followed by di-nucleotides (18.1 %). Gene Ontology (GO) associated with EST-SSR showed the presence of genes related to drought stress, such as PIP, CDK, LEA, <em>etc.</em> A set of 46 EST-SSRs was validated under <em>In-vitro</em> conditions on fourteen cotton genotypes, and 15 EST-SSRs were found to be polymorphic. The polymorphic EST-SSRs markers amplified a total of 44 loci with 32.6 % polymorphism. Genetic analysis revealed that the markers NAU-G-16, NAU-G-39, NAU-G-117 and NAU-G-142 amplified four unique alleles at 121, 163, 224 and 238 bp, respectively, only in drought-tolerant cotton genotypes. The effectiveness of the markers was demonstrated by their high polymorphism information content (PIC), which ranged from 0.35 to 0.89. The large number of markers, 60 %, had a PIC value of &gt;0.6 and were classified as highly informative. The genetic similarity coefficients between cotton genotypes ranged from 0.409 to 0.89, indicating moderate genetic diversity. The Shannon index ranged from 0.21 to 0.65, while the Nei coefficient ranged from 0.12 to 0.46. Clustering and PCo analysis showed the distribution of genotypes into four main clusters, with drought-tolerant genotypes grouped into a single cluster. These drought-responsive markers are promising for the further development of marker-assisted breeding with the aim of increasing the productivity of cotton under drought-prone conditions.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"38 ","pages":"Article 102097"},"PeriodicalIF":1.0,"publicationDate":"2024-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142700805","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mitogenome based adaptations and phylogeny of Beetal goats in India","authors":"Marykutty Thomas ,&nbsp;Jinty Sukumaran ,&nbsp;P.M. Rojan ,&nbsp;R. Thirupathy Venkatachalapathy ,&nbsp;T.V. Aravindakshan ,&nbsp;J. Saalom King ,&nbsp;M.R. Akhila","doi":"10.1016/j.genrep.2024.102094","DOIUrl":"10.1016/j.genrep.2024.102094","url":null,"abstract":"<div><div>Beetal goats, the second largest Indian goat breed, are known for their adaptation to hot arid tropical climates. Beyond their phylogenetic significance, recent evidence suggests that mitogenome modifications play a crucial role in the adaptation of animals to environmental stress factors. This study aims to characterize the mitogenome of Beetal goats at the molecular level, elucidate their mitogenomic adaptations and determine the maternal phylogenetic status of Indian Beetal goats. Whole genome sequencing of pooled DNA samples from five unrelated Beetal goats was carried out to obtain mitogenome sequence. The Beetal goat mitogenome comprised of a coding region with 37 genes: 22 transfer RNAs (tRNAs), 13 protein-coding genes (PCGs), and two ribosomal RNAs (rRNAs), as well as a non-coding hypervariable displacement loop (D-loop) region. We identified nine SNPs inclusive of seven synonymous and two nonsynonymous ones located in PCGs that too in respiratory complex I subunit genes, five of which were novel. Two nonsynonymous SNPs (10,229 A &gt; G in <em>ND4</em> and 13,964 G &gt; A in <em>ND6</em>) were homoplasmic ones with marked influence on their mRNA and protein structures. Synonymous SNPs influenced the minimum free energy (MFE) and topology of predicted mRNA secondary structures, thereby affecting mRNA stability and translation efficiency. Phylogenetic analysis of the D-loop region classified Beetal goats into haplogroup B. Mitogenome analysis of Beetal goats, in comparison with other goat populations revealed the greatest genetic similarity to Southeast Asian goats. The comprehensive analysis of mitochondrial DNA in Beetal goats reveals significant genetic adaptations crucial for their survival in hot, arid environments. This study also highlights the complex matrilineal origins of Beetal goats.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"37 ","pages":"Article 102094"},"PeriodicalIF":1.0,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142703070","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exome sequencing and molecular dynamics simulation characterizes a compound heterozygous GCDH missense variant leading to glutaric aciduria type 1 in a paediatric patient from Jammu and Kashmir, India","authors":"Yaser Rafiq Mir ,&nbsp;Ashish Kumar Agrahari ,&nbsp;Abhishek Choudhary ,&nbsp;Asima Hassan ,&nbsp;Atul Kumar Taneja ,&nbsp;Juan C. Zenteno ,&nbsp;Luis Montes-Almanza ,&nbsp;Marta Rusmini ,&nbsp;Kazunori Namba ,&nbsp;Aaqib Zaffar Banday ,&nbsp;Raja A.H. Kuchay","doi":"10.1016/j.genrep.2024.102092","DOIUrl":"10.1016/j.genrep.2024.102092","url":null,"abstract":"<div><div>Glutaric Aciduria Type 1 (GA1) is a rare autosomal recessive metabolic disorder caused by mutations in the gene GCDH, leading to deficiency of the enzyme glutarylCoA dehydrogenase. This study reports a case of GA1 in a 3-year-old male from Jammu and Kashmir, India, presenting with a compound heterozygous mutation in the GCDH. Whole exome sequencing (WES) and molecular dynamics simulations were employed to investigate the genetic and structural basis of GA1 in the proband. Clinical evaluation, MRI, and tandem mass spectrometry were conducted to assess the patient's metabolic profile and neurological status. The pathogenic impact of the identified mutations (c.881G &gt; A; p.Arg294Gln and c.481C &gt; T; p.Arg161Trp) was analyzed using computational tools and molecular dynamics simulations. Molecular dynamics simulations indicated significant dynamic changes in the mutant protein structures. The R161W mutation increased flexibility, while the R294Q mutation caused notable conformational instability at the catalytic site, reducing its normal protein function and stability. The RMSD, RMSF, and SASA analyses supported these findings, correlating well with experimental observations. The molecular dynamics simulations provided valuable insights into the structural implications of the R161W and R294Q mutations and might contribute to a deeper understanding of GA1 molecular mechanisms.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"38 ","pages":"Article 102092"},"PeriodicalIF":1.0,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142700811","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic predisposition of MTHFR and TNFSF4 gene polymorphism related to hypothyroidism– A meta-analysis","authors":"Iyshwarya Bhaskar Kalarani ,&nbsp;Karpagavel Lakshmanan ,&nbsp;Ramakrishnan Veerabathiran","doi":"10.1016/j.genrep.2024.102091","DOIUrl":"10.1016/j.genrep.2024.102091","url":null,"abstract":"<div><h3>Background</h3><div>Autoimmune thyroid diseases (AITDs), such as hypothyroidism, result from an intricate combination of genetic and environmental influences. The relationship between genetic variations in the MTHFR and TNFSF4 genes and autoimmune illnesses has been established, but their impact on hypothyroidism has not been well investigated. This study examines the associations between specific polymorphisms in the MTHFR (rs1801133) and TNFSF4 (rs3850641 and rs7514229) genes and the risk of hypothyroidism.</div></div><div><h3>Methods</h3><div>The study involved 168 hypothyroid patients and 171 healthy controls, all female and aged 18 to 45, from the Department of Obstetrics and Gynecology, Chettinad Academy of Research and Education in Chennai, India. Exclusion criteria included autoimmune thyroid diseases, pregnancy, medication use, and HIV positivity. Literature from PubMed, Cochrane Library, and Google Scholar, published between 2010 and 2024, was reviewed. Keywords included ‘MTHFR,’ ‘gene,’ ‘rs1801133,’ ‘AITD,’ and ‘Hypothyroidism.’ Heterogeneity was assessed using I² statistics, and the fixed or random effects model was applied accordingly. Sensitivity and publication bias were evaluated through various tests.</div></div><div><h3>Results</h3><div>The GA genotype and A allele were associated with increased hypothyroidism risk (OR = 0.55, 95 % CI: 0.35–0.89; OR = 0.62, 95 % CI: 0.40–0.94). The AA genotype did not significantly affect the MTHFR rs1801133 polymorphism. The G allele was associated with reduced hypothyroidism risk (OR = 0.67, 95 % CI: 0.47–0.97). No significant effects were found for genotype distributions or genetic models in TNFSF4 rs3850641, whereas the TNFSF4 rs7514229 polymorphism, the GT genotype, and the T allele were associated with reduced hypothyroidism risk (OR = 0.46, 95 % CI: 0.23–0.92; OR = 0.48, 95 % CI: 0.25–0.94). The dominant model revealed an elevated risk with GT+TT genotypes, and in the MTHFR rs1801133 polymorphism, the allelic model showed a significant link with hypothyroidism (OR = 1.49, 95 % CI: 0.99–2.22), while other genetic models did not demonstrate persistent significant correlations. A high degree of heterogeneity was identified.</div></div><div><h3>Conclusion</h3><div>The research discovered a strong correlation, particularly in the GA genotype and A allele, between the MTHFR rs1801133 polymorphism and the risk of hypothyroidism. Although some TNFSF4 polymorphisms showed associations with hypothyroidism, their overall impact was modest. Future research should include more significant, more diverse populations to understand better these genetic risk factors and their implications for hypothyroidism prevention and management.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"37 ","pages":"Article 102091"},"PeriodicalIF":1.0,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142703073","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular characterization and sequencing of the whole mitochondrial genome of native duck breed Maithili (Anas platyrhynchos)","authors":"Rajni Kumari ,&nbsp;Ratna Prabha ,&nbsp;Pradeep K. Ray ,&nbsp;S. Dayal ,&nbsp;Golla Thirupathi Rao ,&nbsp;Reena Kumari Kamal ,&nbsp;P.C. Chandran ,&nbsp;A. Dey ,&nbsp;Jyoti Kumar ,&nbsp;M.K. Tripathi ,&nbsp;Sanjay Kumar ,&nbsp;Kamal Sarma","doi":"10.1016/j.genrep.2024.102087","DOIUrl":"10.1016/j.genrep.2024.102087","url":null,"abstract":"<div><div>The Maithili duck breeds are indigenous to southern Asia and hold significant socioeconomic value for duck farmers in India. Though, they face endangerment primarily due to unregulated crossbreeding practices. Present study aimed to characterize the whole mitochondrial genome of the Maithili duck (Anas platyrhynchos, Anseriformes), which is still unexplored. This is first report about sequencing and annotation of full length mitochondrial DNA (mtDNA) of the Maithili duck, revealing a size of 16,607 bp. Thirteen protein-coding genes (PCGs), several ribosomal RNA (rRNA) genes, twenty three transfer RNA (tRNA) genes and a prominent non-coding control region (D-loop) were present in the mtDNA. The initiation codon for each PCG was ATG, except for ND1 (ACA), ND5 (GTG), and COX2 (GTG). Among the 13 PCGs, six terminated with the typical single T-- codon, while the rest ended with TAA, CAA, AGG, and TAG. Moreover, these 13 PCGs' relative synonymous codon usage matched quite well with previous published Anseriformes genomes. Every tRNA gene showed normal secondary structures of a clover-leaf, except for tRNA-Ser (GCT), which did not have the dihydrouridine 'DHU' arm. Phylogenetic analysis positioned the Maithili duck breed in close relation to the mallard breed of Anas platyrhynchos. With the entire mitochondrial genome sequence now available, researchers will find it easier to investigate the evolutionary links between ducks and other bird species and trace the history of domestication.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"37 ","pages":"Article 102087"},"PeriodicalIF":1.0,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142703072","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association between TERT gene polymorphisms (rs2736100 and rs2736109) and breast cancer risk in the Iranian population: A case-control study","authors":"Nima Nikbin Kavishahi ,&nbsp;Seyed Mostafa Shiryazdi ,&nbsp;Farimah Shamsi ,&nbsp;Ali Dadbinpour ,&nbsp;Mahta Mazaheri","doi":"10.1016/j.genrep.2024.102088","DOIUrl":"10.1016/j.genrep.2024.102088","url":null,"abstract":"<div><h3>Background</h3><div>The level of hormones and genetic predispositions increase the risk of breast cancer. Genetic variations in the genes of the telomere pathway, which can influence the activity of telomerase, may be decisive for the development of breast cancer. Due to a lack of studies on <em>TERT</em> gene polymorphisms (rs2736100 and rs2736109) in the Iranian population, in this study we investigated the association of these polymorphisms with breast cancer in the Iranian population.</div></div><div><h3>Patients &amp; methods</h3><div>A total of 300 individuals participated in this research, which included 150 breast cancer patients and 150 healthy controls. Participants' blood samples were collected before the beginning of treatment. The RFLP-PCR procedure was used for the genotyping of <em>TERT</em> gene rs2736109 and rs2736100 polymorphisms.</div></div><div><h3>Results</h3><div>There are statistically significant differences in the age of menarche and the age of menopause (<em>P</em>-value &lt;0.05). For rs2736100, the frequency of TT genotype in the case and control groups was 22.7 % and 16.7 %, respectively. However, these differences were not statistically significant (<em>P</em>-value &gt;0.05). For rs2736109, the frequency of the AA genotype was lower in the case group (12.0 % vs. 19.3 %). These differences reach a statistically significant level (P-value = 0.012). Individuals carrying AA genotype have a lower risk of suffering from breast cancer (odds ratio = 0.403, 95 % CI: 0.196–0.827).</div></div><div><h3>Conclusion</h3><div>Our findings suggest that the rs27326109 polymorphism in the TERT gene is associated with a decreased risk of breast cancer. Also this study reveals that age of menarche and age of menopause are associated with risk of this disease.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"37 ","pages":"Article 102088"},"PeriodicalIF":1.0,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142703074","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unveiling a rare endocrine puzzle: A case of CDKN1B mutation-associated MEN4 syndrome","authors":"Sunil Epuri,&nbsp;Dudi Nikitha,&nbsp;Kalyan Ram Uppaluri,&nbsp;Hima Jyothi Challa,&nbsp;Kalyani Palasamudram,&nbsp;Vrushabh Anil Nikhade,&nbsp;K. Sri Manjari","doi":"10.1016/j.genrep.2024.102089","DOIUrl":"10.1016/j.genrep.2024.102089","url":null,"abstract":"<div><div>A woman with a prior diagnosis of thyroid dysfunction was found to have hyperprolactinemia and incidental hypercalcemia. Further investigation led to the diagnosis of a parathyroid adenoma. The unique constellation of hormonal abnormalities and multifocal thyroid nodules defied explanation by known MEN syndromes (no family history). We report the identification of a heterozygous p.Val109Gly mutation in <em>CDKN1B</em>, a gene associated with MEN4 syndrome, through targeted genetic testing. The presented case expands the phenotypic spectrum of MEN4 and highlights the utility of genetic testing in diagnosing syndromic forms of endocrine hyperplasias.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"37 ","pages":"Article 102089"},"PeriodicalIF":1.0,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142703075","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The complete mitochondrial genome of Dama dama, and their phylogenetic relationships to other Cervidae","authors":"Rebecca Barnard,&nbsp;Judith Smith","doi":"10.1016/j.genrep.2024.102081","DOIUrl":"10.1016/j.genrep.2024.102081","url":null,"abstract":"<div><div>This publication presents the complete mitochondrial genome of <em>Dama dama</em> along with in depth phylogenetic relationship and species divergence analysis in respect to other Cervidae. The mitochondrial genome presented here is 16,332 bp which is comprised of 13 genes, 2 rRNAs and 22 tRNAs. The mitochondrial genome for <em>Dama dama</em> is the smallest, compared to other Cervidae. Transfer RNA genes have a specific secondary structure, resembling a clover leaf, however, tRNA^Ser (Serine 1) in <em>Dama dama</em> has been found to only have 3 arms, it is missing the dihydrouridine arm. The phylogenetic analysis conducted in this study compared the mitochondrial sequences from 25 different Cervidae species. Findings suggest that <em>Dama dama,</em> compared to other Cervidae, is most closely related to <em>Dama mesopotamica</em> and <em>Megaloceros giganteus.</em> With regards to <em>Dama dama</em>, the species divergence time from <em>Dama mesopotamica</em> and <em>Megaloceros giganteus</em> is 5.68 mya. Whereas the divergence time between <em>Dama mesopotamica</em> and <em>Megaloceros giganteus</em> is 5.35 mya. Our findings provide strong support for the distinction between <em>Dama dama</em> and <em>Dama mesopotamica</em> as a sub-species and a close evolutionary relationship between <em>Dama mesopotamica</em> and <em>Megaloceros giganteus</em>. Supporting previous reports of a sister-group relationship with a shared common ancestor. This study has provided a new perspective on the ancestral origin of the <em>Dama</em> genus, which can be further investigated using the <em>Dama dama</em> mitochondrial genome presented in this report. Understanding the evolution of <em>Dama dama</em> may help to better understand the lack of genetic diversity within the species and advance future management strategies to resolve this.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"37 ","pages":"Article 102081"},"PeriodicalIF":1.0,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142651477","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hepcidin: A potent antimicrobial peptide involved in iron homeostasis","authors":"Saiedeh Razi Soofiyani ,&nbsp;Elghar Soltani ,&nbsp;Masoomeh Kashef Nejad-Khelejani ,&nbsp;Reza Ghanbari ,&nbsp;Mohammad Yousef Memar","doi":"10.1016/j.genrep.2024.102082","DOIUrl":"10.1016/j.genrep.2024.102082","url":null,"abstract":"<div><div>Antimicrobial peptides (AMPs) are involved in the innate immunity of human body to battle microbial pathogens. In addition, human AMPs play also an important role in several biological procedures included cell proliferation, soft tissue damage healing and control of immune response. Hepcidin is a cysteine-rich 25-amino acid AMP produced by the liver and plays an important role in the control of iron homeostasis in the human body. Furthermore, its principal role in iron regulation, hepcidin is also an AMP with wide-spectrum antimicrobial effects on Gram-positive bacteria, Gram-negative bacteria, and fungi without triggering side effects in mammalian cells. Significantly, the bactericidal properties of hepcidin are dependent on the integrity of the disulfide bridges and precise folding of hepcidin. The aims of present study were review the biological effects specially role in iron homeostasis and antimicrobial effects of hepcidin.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"37 ","pages":"Article 102082"},"PeriodicalIF":1.0,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142651478","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dyskeratosis congenita future: Hematopoietic stem cell transplantation or gene therapy?","authors":"Saba Manoochehrabadi ,&nbsp;Maryam Behfar ,&nbsp;Mohammad Ahmadvand ,&nbsp;Amir Ali Hamidieh","doi":"10.1016/j.genrep.2024.102072","DOIUrl":"10.1016/j.genrep.2024.102072","url":null,"abstract":"<div><div>Dyskeratosis congenital (DC) is a rare, multi-organ cancer-prone inherited bone marrow failure syndrome (IBMFs) caused by defects in telomere biology. IBMFs manifest as ineffective and stressed hematopoiesis owing to germline mutations that cause the failure of hematopoietic stem cell progenitor cells. The clinical presentation is heterogeneous, and serious clinical complications include bone marrow failure, hematological and solid tumors. Bone marrow failure is the main cause of death, although pulmonary fibrosis, hepatic cirrhosis, and cancer significantly contribute to morbidity and mortality. Currently, there is no specific medical treatment for DC. Hematopoietic stem cell transplantation (HSCT) is the only definitive treatment to restore bone marrow function, although it does not correct other abnormalities. HSCT may be a treatment option in subjects affected by DC and bone marrow failure, but it is associated with a high risk of early and late mortality due to infections, organ damage, and secondary malignancies. However, because of the toxicity associated with this treatment and adverse outcomes of HSCT in DC compared to other IBMFs, improved therapies are recommended for DC patients. As a result, gene therapy techniques based on the genetic modification of autologous hematopoietic stem and progenitor cells (HSPCs) have been explored. This review aims to provide a brief description of the currently known clinical and genetic characteristics, disease progression, and diagnosis and discuss HSCT and emerging strategies for using HSPC gene therapy for DC.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"38 ","pages":"Article 102072"},"PeriodicalIF":1.0,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142700812","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}