Whole exome sequencing revealed a novel dystrophin-related protein-2 (DRP2) deletion in an Iranian family with symptoms of polyneuropathy.

Abstract:

Objectives:Charcot-Marie Tooth disease (CMT) is one of the main inherited causes of motor and sensory neuropathies with variable expressivity and age-of onset. Although more than 70 genes have been identified for CMT, more studies are needed to discover other genes involved in CMT. Introduction of whole exome sequencing (WES) to capture all the exons may help to find these genes. Materials and Methods:Here, we tried to find the genetic cause of the neuropathy in two Iranian brothers using WES. Blood sample was collected from probands and their family members to extract the genomic DNA. The extracted DNA from one of the affected case was subjected for WES. The variant calls were filtered to reveal the pathogenic variant. Presence of the candidate mutation was confirmed using Sanger sequencing. The pathogenic potential of the variant was examined using in silico software. Using ClustalW multiple alignment, the presence of variant in conserved domain of protein was investigated. The parent and another affected boy were also checked for presence of the variant using PCR-sequencing. Results:The obtained data presented a novel TTC del mutation in CDS 738 of dystrophin related protein 2 (DRP2) gene, which was validated by sequencing. The variant was located in a conserved domain of DRP2 protein and predicted as pathogenic. Two affected boys were hemizygous for the mutation and received the mutation from mother. Conclusion:Here, we provided the evidence for the contribution of DRP2 in CMT. Also, the symptoms shed light on molecular aspect of this genetically heterogeneous disease.

journal_name

Iran J Basic Med Sci

authors

Tahmasebi-Birgani M,Hajjari M,Golchin N,Shalbafan B,Mohammadi-Asl J,Sadeghian F

doi

10.22038/ijbms.2019.30754.7414

subject

Has Abstract

pub_date

2019-05-01 00:00:00

pages

576-580

issue

5

eissn

2008-3866

issn

2008-3874

journal_volume

22

pub_type

杂志文章
  • Pharmacological effects of rosa damascena.

    abstract::Rosa damascena mill L., known as Gole Mohammadi in is one of the most important species of Rosaceae family flowers. R. damascena is an ornamental plant and beside perfuming effect, several pharmacological properties including anti-HIV, antibacterial, antioxidant, antitussive, hypnotic, antidiabetic, and relaxant effec...

    journal_title:Iranian journal of basic medical sciences

    pub_type: 杂志文章

    doi:

    authors: Boskabady MH,Shafei MN,Saberi Z,Amini S

    更新日期:2011-07-01 00:00:00

  • Epigenetic: A missing paradigm in cellular and molecular pathways of sulfur mustard lung: a prospective and comparative study.

    abstract::Sulfur mustard (SM, bis- (2-chloroethyl) sulphide) is a chemical warfare agent that causes DNA alkylation, protein modification and membrane damage. SM can trigger several molecular pathways involved in inflammation and oxidative stress, which cause cell necrosis and apoptosis, and loss of cells integrity and function...

    journal_title:Iranian journal of basic medical sciences

    pub_type: 杂志文章,评审

    doi:

    authors: Imani S,Panahi Y,Salimian J,Fu J,Ghanei M

    更新日期:2015-08-01 00:00:00

  • Essential oils chemical composition, antioxidant activities and total phenols of Astrodaucus persicus.

    abstract:OBJECTIVES:Astrodaucus persicus, Apiaceae, is used as vegetable or food additive in some parts of Iran. The essential oils of different parts of Astrodaucus persicus from Kordestan province were analyzed for the first time and compared with other regions. In this study, antioxidant activities and total phenols determin...

    journal_title:Iranian journal of basic medical sciences

    pub_type: 杂志文章

    doi:

    authors: Goodarzi S,Hadjiakhoondi A,Yassa N,Khanavi M,Tofighi Z

    更新日期:2016-02-01 00:00:00

  • Low-frequency vibration treatment of bone marrow stromal cells induces bone repair in vivo.

    abstract:OBJECTIVES:To study the effect of low-frequency vibration on bone marrow stromal cell differentiation and potential bone repair in vivo. MATERIALS AND METHODS:Forty New Zealand rabbits were randomly divided into five groups with eight rabbits in each group. For each group, bone defects were generated in the left humer...

    journal_title:Iranian journal of basic medical sciences

    pub_type: 杂志文章

    doi:10.22038/ijbms.2017.8088

    authors: He S,Zhao W,Zhang L,Mi L,Du G,Sun C,Sun X

    更新日期:2017-01-01 00:00:00

  • Tyrosinase inhibitory properties of phenylpropanoid glycosides and flavonoids from Teucrium polium L. var. gnaphalodes.

    abstract:OBJECTIVES:In food industry, the inhibition of tyrosinase is very important, because this enzyme catalyzes the oxidation of phenolic compounds found in fruits and vegetables into quinones, which contribute in undesirable color and taste of fruits and vegetables. Teucrium polium L. var. gnaphalodes (Lamiaceae), a wild-g...

    journal_title:Iranian journal of basic medical sciences

    pub_type: 杂志文章

    doi:

    authors: Boghrati Z,Naseri M,Rezaie M,Pham N,Quinn RJ,Tayarani-Najaran Z,Iranshahi M

    更新日期:2016-08-01 00:00:00

  • Molecular mechanisms regulating immune responses in thromboangiitis obliterans: A comprehensive review.

    abstract::Thromboangiitis obliterans (TAO) is a thrombotic-occlusive as well as an inflammatory peripheral vascular disease with unknown etiology. Recent evidence has supported the immunopathogenesis of the disease, however, the factors contributing to the altered immune function and vascular tissue inflammation are still uncle...

    journal_title:Iranian journal of basic medical sciences

    pub_type: 杂志文章,评审

    doi:10.22038/ijbms.2019.31119.7513

    authors: Shapouri-Moghaddam A,Saeed Modaghegh MH,Rahimi HR,Ehteshamfar SM,Tavakol Afshari J

    更新日期:2019-03-01 00:00:00

  • LC-MS based identification of stylosin and tschimgine from fungal endophytes associated with Ferula ovina.

    abstract:Objectives:Ferula ovina is an Iranian medicinal plant. Tschimgine and stylosin are two of its major monoterpene derivatives. In this study, we proceeded to investigate some fungal endophytes from F. ovina that can produce plant secondary metabolites. Materials and Methods:The isolated endophytic fungi were fermented i...

    journal_title:Iranian journal of basic medical sciences

    pub_type: 杂志文章

    doi:10.22038/ijbms.2020.46334.10703

    authors: Tazik Z,Rahnama K,White JF,Soltanloo H,Hasanpour M,Iranshahi M

    更新日期:2020-12-01 00:00:00

  • The role of nitric oxide in the protective action of remote ischemic per-conditioning against ischemia/reperfusion-induced acute renal failure in rat.

    abstract:Objectives:We investigated the role of nitric oxide (NO) in the protective effects of remote ischemic per-conditioning (rIPerC) on renal ischemia/reperfusion (I/R) injury in male rats. Materials and Methods:I/R treatment consisted of 45 min bilateral renal artery ischemia and 24 hr reperfusion interval. rIPerC was per...

    journal_title:Iranian journal of basic medical sciences

    pub_type: 杂志文章

    doi:10.22038/IJBMS.2018.25810.6354

    authors: Gholampour F,Khangah L,Vatanparast J,Karbalaei-Heidari HR,Owji SM,Bahaoddini A

    更新日期:2018-06-01 00:00:00

  • Protection of rats from thioacetamide-induced hepatic fibrosis by the extracts of a traditional Uighur medicine Cichorium glandulosum.

    abstract:OBJECTIVES:To clarify the protective effects of Cichorium glandulosum (CG) extracts on thioacetamide (TAA)-induced rat hepatic fibrosis. MATERIALS AND METHODS:The dry roots of CG were smashed and percolated with 95% ethanol, and the residual was prepared into petroleum ether extract (CG-V), ethyl acetate extract (CG-V...

    journal_title:Iranian journal of basic medical sciences

    pub_type: 杂志文章

    doi:

    authors: Qin D,Nie Y,Wen Z

    更新日期:2014-11-01 00:00:00

  • Hypolipidemic effects of total flavonoide extracted from the leaves of Actinidiakolomikta in rats fed a high-fat diet.

    abstract:Objectives:This study was to investigate the antihyperlipidemic and antioxidant effect of total flavonoid extract from Actinidiakolomikta (TFAK) in hyperlipidemia induced by a high-fat diet. Materials and Methods:Male SD rats were randomly divided into 6 groups: normal group, model (hyperlipidemic diet) group, hyperli...

    journal_title:Iranian journal of basic medical sciences

    pub_type: 杂志文章

    doi:10.22038/IJBMS.2017.9365

    authors: Yu Z,Xu H,Yu X,Sui D,Lin G

    更新日期:2017-10-01 00:00:00

  • Synergistic bactericidal activity of a naturally isolated phage and ampicillin against urinary tract infecting Escherichia coli O157.

    abstract:Objectives:Bacteriophages are infectious replicating entities that are under consideration as antimicrobial bioagents to control bacterial infections. As an alternative or supplement to antibiotics, bacteriophages can be used to circumvent the resistance to existing antibiotics. The aim of this study was to assess the ...

    journal_title:Iranian journal of basic medical sciences

    pub_type: 杂志文章

    doi:10.22038/IJBMS.2019.37561.8989

    authors: Moradpour Z,Yousefi N,Sadeghi D,Ghasemian A

    更新日期:2020-02-01 00:00:00

  • Moisturizing effects of solid lipid nanoparticles (SLN) and nanostructured lipid carriers (NLC) using deionized and magnetized water by in vivo and in vitro methods.

    abstract:Objectives:The present study aimed to determine and compare moisturizing and occlusion effects of different solid lipid nanoparticles (SLN) and nanostructured lipid carriers (NLC) using magnetized water and deionized water. Materials and Methods:SLN formulations were prepared using various lipids, including Tripalmiti...

    journal_title:Iranian journal of basic medical sciences

    pub_type: 杂志文章

    doi:10.22038/IJBMS.2020.39587.9397

    authors: Sarhadi S,Gholizadeh M,Moghadasian T,Golmohammadzadeh S

    更新日期:2020-03-01 00:00:00

  • Staging of colorectal cancer using serum metabolomics with 1HNMR Spectroscopy.

    abstract:OBJECTIVES:Determination of stages of colon cancer is done by biopsy usually after surgery. Metabolomics is the study of all the metabolites using LC-MS and 1HNMR spectroscopy with chemometric techniques. The stages of colon cancer were detected from patients' sera using 1HNMR. MATERIALS AND METHODS:Five ml blood was ...

    journal_title:Iranian journal of basic medical sciences

    pub_type: 杂志文章

    doi:10.22038/IJBMS.2017.9022

    authors: Vahabi F,Sadeghi S,Arjmand M,Mirkhani F,Hosseini E,Mehrabanfar M,Hajhosseini R,Iravani A,Bayat P,Zamani Z

    更新日期:2017-07-01 00:00:00

  • Microbiome alterations are related to an imbalance of immune response and bacterial translocation in BDL-rats.

    abstract:Objectives:Bacterial translocation in patients with cirrhosis is an important triggering factor for infections and mortality. In the bile duct ligation (BDL) model, crucial players of bacterial translocation are still unknown. This study aims to determine the interrelation between microbiome composition in the colon, m...

    journal_title:Iranian journal of basic medical sciences

    pub_type: 杂志文章

    doi:10.22038/IJBMS.2019.36487.8753

    authors: Vega-Magaña N,Galiana A,Jave-Suárez LF,Garcia-Benavides L,Del Toro-Arreola S,Andrade-Villanueva JF,González-Hernández LA,Cremades R,Aguilar-Lemarroy A,Flores-Miramontes MG,Haramati J,Meza-Arroyo J,Bueno-Topete MR

    更新日期:2020-02-01 00:00:00

  • Design of cocktail peptide vaccine against Cytomegalovirus infection.

    abstract:OBJECTIVES:Human Cytomegalovirus (HCMV) remains a major morbidity and mortality cause in immuno suppressed patients. Therefore, significant effort has been made towards the development of a vaccine. In this study, the expression of the pp65 and gB fusion peptides and Fc domain of mouse IgG2a as a novel delivery system ...

    journal_title:Iranian journal of basic medical sciences

    pub_type: 杂志文章

    doi:

    authors: Tabaei S,Mashkani B,Esmaili A,Karimi R,Jamehdar SA

    更新日期:2016-04-01 00:00:00

  • In vitro assessment of alendronate toxic and apoptotic effects on human dental pulp stem cells.

    abstract:Objectives:Osteonecrosis of the jaw, as an exposed necrotic bone in the oral cavity, is one of the adverse effects of bisphosphonates, which have an affinity for bone minerals. This study investigates the cytotoxic effects of alendronate (ALN) as a nitrogen-containing bisphosphonate, on human dental pulp stem cells (hD...

    journal_title:Iranian journal of basic medical sciences

    pub_type: 杂志文章

    doi:10.22038/IJBMS.2018.22877.5816

    authors: Pourgonabadi S,Ghorbani A,Tayarani Najarn Z,Mousavi SH

    更新日期:2018-09-01 00:00:00

  • Linc-ROR and its spliced variants 2 and 4 are significantly up-regulated in esophageal squamous cell carcinoma.

    abstract:OBJECTIVES:Similar characteristics of molecular pathways between cellular reprogramming events and tumorigenesis have been accentuated in recent years. Reprogramming-related transcription factors, also known as Yamanaka factors (OCT4, SOX2, KLF4, and c-MYC), are also well-known oncogenes promoting cancer initiation, pr...

    journal_title:Iranian journal of basic medical sciences

    pub_type: 杂志文章

    doi:

    authors: Sahebi R,Malakootian M,Balalaee B,Shahryari A,Khoshnia M,Abbaszadegan MR,Moradi A,Javad Mowla S

    更新日期:2016-10-01 00:00:00

  • Inhibition of Akt phosphorylation attenuates resistance to TNF-α cytotoxic effects in MCF-7 cells, but not in their doxorubicin resistant derivatives.

    abstract:OBJECTIVES:Acquisition of TNF-α resistance plays role in the onset and growth of malignant tumors. Previous studies have demonstrated that MCF-7 cell line and its doxorubicin resistant variant MCF-7/Adr are resistant against the cytotoxic effects of TNF-α. In this study, we investigated the role of Akt activation in re...

    journal_title:Iranian journal of basic medical sciences

    pub_type: 杂志文章

    doi:10.22038/ijbms.2016.7924

    authors: Ghandadi M,Mohammadi A,Behravan J,Abnous K,Haj-Ali N,Gharaee ME,Mosaffa F

    更新日期:2016-12-01 00:00:00

  • Possible protective effects of resveratrol in hepatocellular carcinoma.

    abstract:Objectives:Resveratrol (RSV) is a naturally occurring plant polyphenol with cardioprotective, neuroprotective, immunoregulatory, and anticancer properties and is biologically effective against various diseases. This study aimed to investigate the chemopreventive effect of different doses of RSV against hepatocellular c...

    journal_title:Iranian journal of basic medical sciences

    pub_type: 杂志文章

    doi:10.22038/IJBMS.2019.36821.8774

    authors: Karabekir SC,Özgörgülü A

    更新日期:2020-01-01 00:00:00

  • In vivo effects of allogeneic mesenchymal stem cells in a rat model of acute ischemic kidney injury.

    abstract:Objectives:Renal ischemia-reperfusion injury (IRI) as a severe condition of acute kidney injury (AKI) is the most common clinical problem with high mortality rates of 35-60% deaths in hospital. Mesenchymal stem cells (MSC) due to unique regenerative characteristics are ideal candidates for the treatment of the ischemic...

    journal_title:Iranian journal of basic medical sciences

    pub_type: 杂志文章

    doi:10.22038/IJBMS.2018.26829.6566

    authors: Havakhah S,Sankian M,Kazemzadeh GH,Sadri K,Bidkhori HR,Naderi-Meshkin H,Ebrahimzadeh Bideskan A,Niazmand S,Bahrami AR,Khajavi Rad A

    更新日期:2018-08-01 00:00:00

  • Determination of methanol concentrations in traditional herbal waters of different brands in iran.

    abstract:OBJECTIVES:Herbal waters are extensively used in most parts of including . Visiting a patient with total blindness due to daily ingestion of around 200 ml of herbal water (Plant forty water) per day for six months was the rational for methanol determination in all herbal waters available in markets. MATERIALS AND METH...

    journal_title:Iranian journal of basic medical sciences

    pub_type: 杂志文章

    doi:

    authors: Mousavi SR,Namaei-Ghassemi M,Layegh M,Afzalaghaee M,Vafaee M,Zare G,Moghiman T,Mood MB

    更新日期:2011-07-01 00:00:00

  • Biochemical and computational study of an alginate lyase produced by Pseudomonas aeruginosa strain S21.

    abstract:Objectives:Alginates play a key role in mucoid Pseudomonas aeruginosa colonization, biofilm formation, and driving out of cationic antibiotics. P. aeruginosa alginate lyase (AlgL) is a periplasmic enzyme that is necessary for alginate synthesis and secretion. It also has a role in depolymerization of alginates. Using A...

    journal_title:Iranian journal of basic medical sciences

    pub_type: 杂志文章

    doi:10.22038/ijbms.2020.37277.8874

    authors: Piroozmand F,Ghadam P,Zarrabi M,Abdi-Ali A

    更新日期:2020-04-01 00:00:00

  • Pterocarpus santalinus ameliorates streptozotocin-induced diabetes mellitus via anti-inflammatory pathways and enhancement of insulin function.

    abstract:Objectives:Morbidity and mortality due to diabetes mellitus (DM) result in exorbitant psycho-economical costs, so there is a strong need to create new strategies and drugs for controlling DM. The aim of the current study was to investigate the anti-diabetic effect of the aqueous extract of Pterocarpus santalinus on str...

    journal_title:Iranian journal of basic medical sciences

    pub_type: 杂志文章

    doi:10.22038/ijbms.2019.34998.8325

    authors: El-Badawy RE,Ibrahim KA,Hassan NS,El-Sayed WM

    更新日期:2019-08-01 00:00:00

  • Therapeutic uses and pharmacological properties of garlic, shallot, and their biologically active compounds.

    abstract:OBJECTIVE(S):Garlic (Allium sativum L. family Liliaceae) is well known in Iran and its leaves, flowers, and cloves have been used in traditional medicine for a long time. Research in recent decades has shown widespread pharmacological effects of A. sativum and its organosulfur compounds especially Allicin. Studies carr...

    journal_title:Iranian journal of basic medical sciences

    pub_type: 杂志文章,评审

    doi:

    authors: Mikaili P,Maadirad S,Moloudizargari M,Aghajanshakeri S,Sarahroodi S

    更新日期:2013-10-01 00:00:00

  • Saffron Aqueous Extract Inhibits the Chemically-induced Gastric Cancer Progression in the Wistar Albino Rat.

    abstract:OBJECTIVE(S):Gastric cancer is the first and second leading cause of cancer related death in Iranian men and women, respectively. Gastric cancer management is based on the surgery, radiotherapy and chemotherapy. In the present study, for the first time, the beneficial effect of saffron (Crocus sativus L.) aqueous extra...

    journal_title:Iranian journal of basic medical sciences

    pub_type: 杂志文章

    doi:

    authors: Bathaie SZ,Miri H,Mohagheghi MA,Mokhtari-Dizaji M,Shahbazfar AA,Hasanzadeh H

    更新日期:2013-01-01 00:00:00

  • 99mTc-Glucarate for assessment of paclitaxel therapy in human ovarian cancer in mice.

    abstract:Objectives:The monitoring of cancer treatment response to chemotherapy is considered an essential strategy for follow-up of patients. The aim of this study was to evaluate the use of 99mTc-glucarate as a radiotracer for in vivo quantification and visualization of necrotic area and therapeutic effect of paclitaxel in ov...

    journal_title:Iranian journal of basic medical sciences

    pub_type: 杂志文章

    doi:10.22038/IJBMS.2017.24707.6138

    authors: Sadeghi H,Rahmanian N,Amiri FT,Amirfakhrian H,Abedi SM,Hosseinimehr SJ

    更新日期:2018-01-01 00:00:00

  • Estrogen agonist genistein differentially influences the cognitive and motor disorders in an ovariectomized animal model of Parkinsonism.

    abstract:OBJECTIVES:Parkinson's disease (PD) is a progressive neurological disorder associated with motor disabilities and cognitive dysfunction as well. Evidence indicates that PD occurs less frequently in women than men, confirming a role for steroid hormones in protection of dopaminergic nigrostriatal neurons. It is reported...

    journal_title:Iranian journal of basic medical sciences

    pub_type: 杂志文章

    doi:10.22038/ijbms.2016.7911

    authors: Arbabi E,Hamidi G,Talaei SA,Salami M

    更新日期:2016-12-01 00:00:00

  • HPV18 E7 induces the over-transcription of eIF4E gene in cervical cancer.

    abstract:OBJECTIVES:Eukaryotic translation initiation factor 4E (eIF4E) is overexpressed in cervical cancer (CC). However, the molecular mechanisms are unclear. This study aimed to investigate the molecular mechanism of eIF4E gene overexpression in CC. MATERIALS AND METHODS:The human papillomavirus (HPV) type 18 E7 and eIF4E m...

    journal_title:Iranian journal of basic medical sciences

    pub_type: 杂志文章

    doi:

    authors: Pang T,Wang S,Gao M,Kang H,Zhao Y,Yao Y,Hu X

    更新日期:2015-07-01 00:00:00

  • Tadalafil attenuates graft arteriosclerosis of aortic transplant in a rat model.

    abstract:OBJECTIVES:Tadalafil can restore endothelial function and treat atherosclerosis. However, the effect of tadalafil on transplant arteriosclerosis remains unclear. In this study, we explore the effects of tadalafil on allograft vasculopathy. MATERIALS AND METHODS:Male Brow-Norway rats supplied aorta grafts for Male Lewi...

    journal_title:Iranian journal of basic medical sciences

    pub_type: 杂志文章

    doi:

    authors: Ziqiang X,Jingjun W,Jianjian Z,Yong L,Peng X

    更新日期:2015-09-01 00:00:00

  • The cardioprotective effect of vanillic acid on hemodynamic parameters, malondialdehyde, and infarct size in ischemia-reperfusion isolated rat heart exposed to PM10.

    abstract:OBJECTIVES:Particulate matter (PM) exposure can promote cardiac ischemia and myocardial damage. The effects of PM10 on hemodynamic parameters, lipid peroxidation, and infarct size induced by ischemia-reperfusion injury and the protective effects of vanillic acid (VA) in isolated rat heart were investigated. MATERIALS ...

    journal_title:Iranian journal of basic medical sciences

    pub_type: 杂志文章

    doi:10.22038/IJBMS.2017.9007

    authors: Radmanesh E,Dianat M,Badavi M,Goudarzi G,Mard SA

    更新日期:2017-07-01 00:00:00