Nemaline Rod/Cap Myopathy Due to Novel Homozygous MYPN Mutations: The First Report from South Asia and Comprehensive Literature Review

Polavarapu Kiran,Bardhan Mainak,Anjanappa Ram Murthy,Vengalil Seena,Preethish-Kumar Veeramani,Shingavi Leena,Chawla Tanushree,Nashi Saraswati,Mohan Dhaarini,Arunachal Gautham,Geetha Thenral S.,Rampras 대한신경과학회 2021 Journal of Clinical Neurology Vol.17 No.3

Background and Purpose Pathogenic variants in the myopalladin gene (MYPN) are known to cause mildly progressive nemaline/cap myopathy. Only nine cases have been reported in the English literature. Methods A detailed evaluation was conducted of the clinical, muscle magnetic resonance imaging (MRI), and genetic findings of two unrelated adults with MYPN-related cap myopathy. Genetic analysis was performed using whole-exome sequencing. MRI was performed on a 1.5-T device in patient 1. Results Two unrelated adults born to consanguineous parents, a 28-year-old male and a 23-year-old female, were diagnosed with pathogenic variants in MYPN that cause cap myopathy. Both patients presented with early-onset, insidiously progressive, and minimally disabling proximodistal weakness with mild ptosis, facial weakness, and bulbar symptoms. Patient 1 had a prominent foot drop from the onset. Both patients were followed up at age 30 years, at which point serum creatine kinase concentrations were minimally elevated. There were no cardiac symptoms; electrocardiograms and two-dimensional echocardiograms were normal in both patients. Muscle MRI revealed preferential involvement of the glutei, posterior thigh muscles, and anterior leg muscles. Whole-exome sequencing revealed significant homozygous splicesite variants in both of the probands, affecting intron 10 of MYPN: c.1973+1G>C (patient 1) and c.1974-2A>C (patient 2). Conclusions This study elaborates on two patients with homozygous MYPN pathogenic variants, presenting as slowly progressive congenital myopathy. These patients are only the tenth and eleventh cases reported in the English literature, and the first from South Asia. The clinical phenotype reiterates the mild form of nemaline rod/cap myopathy. A comprehensive literature review is presented.

Commercial Policy with Vertical Product Differentiation

Polavarapu, Ramana,Vaidya, Ashish 세종대학교 국제경제연구소 1996 Journal of Economic Integration Vol.11 No.2

We examine the nature of commercial and domestic policy (tariffs, taxes/subsidies, and quality restrictions) in a model of vertical product differentiation. A foreign firm competes with a domestic firm in the latter's market, producing products of varying quality, and competing in prices. We show that a specific tariff on the foreign firm raises overall welfare in the domestic economy, while an ad valorem tariff has a similar effect only when the foreign firm produces the lower quality product. Tariffs on the foreign firm typically induce the domestic firm to upgrade the quality of its product, when it produces the lower quality product. A subsidy is always the optimal policy towards the domestic firm. If quality restrictions are imposed on the foreign firm, the domestic firm upgrades quality, and overall welfare in the domestic economy is once again higher.(JEL: F12, F13)

Commercial Policy with Vertical Product Differentiation

( Ramana Polavarapu ),( Ashish Vaidya ) 세종대학교 경제통합연구소 1996 Journal of Economic Integration Vol.11 No.2

We examine the nature of commercial and domestic policy (tariffs, taxes/ subsidies, and quality restrictions) in a model of vertical product differentiation. A foreign firm competes with a domestic firm in the latter`s market, producing products of varying quality, and competing in prices. We show that a specific tariff on the foreign firm raises overall welfare in the domestic economy, while an ad valorem tariff has a similar effect only when the foreign firm produces the lower quality product. Tariffs on the foreign firm typically induce the domestic firm to upgrade the quality of its product, when it produces the lower quality product. A subsidy is always the optimal policy towards the domestic firm. If quality restrictions are imposed on the foreign firm, the domestic firm upgrades quality, and overall welfare in the domestic economy is once again higher (JEL: F12, F13)

Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort

Seena Vengalil,Veeramani Preethish-Kumar,Kiran Polavarapu,Manjunath Mahadevappa,Deepha Sekar,Meera Purushottam,Priya Treesa Thomas,Saraswathi Nashi,Atchayaram Nalini 대한신경과학회 2017 Journal of Clinical Neurology Vol.13 No.1

Background and Purpose Studies of cases of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) confirmed by multiplex ligation-dependent probe amplification (MLPA) have determined the clinical characteristics, genotype, and relations between the reading frame and phenotype for different countries. This is the first such study from India. Methods A retrospective genotype-phenotype analysis of 317 MLPA-confirmed patients with DMD or BMD who visited the neuromuscular clinic of a quaternary referral center in southern India. Results The 317 patients comprised 279 cases of DMD (88%), 32 of BMD (10.1%), and 6 of intermediate phenotype (1.9%). Deletions accounted for 91.8% of cases, with duplications causing the remaining 8.2%. There were 254 cases of DMD (91%) with deletions and 25 (9%) due to duplications, and 31 cases (96.8%) of BMD with deletions and 1 (3.2%) due to duplication. All six cases of intermediate type were due to deletions. The most-common mutation was a single-exon deletion. Deletions of six or fewer exons constituted 68.8% of cases. The deletion of exon 50 was the most common. The reading-frame rule held in 90% of DMD and 94% of BMD cases. A tendency toward a lower IQ and earlier wheelchair dependence was observed with distal exon deletions, though a significant correlation was not found. Conclusions The reading-frame rule held in 90% to 94% of children, which is consistent with reports from other parts of the world. However, testing by MLPA is a limitation, and advanced sequencing methods including analysis of the structure of mutant dystrophin is needed for more-accurate assessments of the genotype-phenotype correlation.

Understanding Solvent Effects in Vibrational Circular Dichroism Spectra: [1,1′-Binaphthalene]-2,2′-diol in Dichloromethane, Acetonitrile, and Dimethyl Sulfoxide Solvents

Nicu, Valentin Paul,Baerends, Evert Jan,Polavarapu, Prasad L. American Chemical Society 2012 The Journal of physical chemistry A Vol.116 No.32

<P>We present a combined experimental and computational investigation of the vibrational absorption (VA) and vibrational circular dichroism (VCD) spectra of [1,1′-binaphthalene]-2,2′-diol. First, the sensitive dependence of the experimental VA and VCD spectra on the solvent is demonstrated by comparing the experimental spectra measured in CH<SUB>2</SUB>Cl<SUB>2</SUB>, CD<SUB>3</SUB>CN, and DMSO-<I>d</I><SUB>6</SUB> solvents. Then, by comparing calculations performed for the isolated solute molecule to calculations performed for molecular complexes formed between solute and solvent molecules, we identify three main types of perturbations that affect the shape of the VA and VCD spectra when going from one solvent to another. These sources of perturbations are (1) perturbation of the Boltzmann populations, (2) perturbation of the electronic structure, and (3) perturbation of the normal modes.</P><P><B>Graphic Abstract</B> <IMG SRC='http://pubs.acs.org/appl/literatum/publisher/achs/journals/content/jpcafh/2012/jpcafh.2012.116.issue-32/jp303891x/production/images/medium/jp-2012-03891x_0011.gif'></P><P><A href='http://pubs.acs.org/doi/suppl/10.1021/jp303891x'>ACS Electronic Supporting Info</A></P>

Identification and expression profile of dhurrin biosynthesis pathway genes in sorghum vegetative tissues

Katamreddy Sri Cindhuri,Reddy Bommineni Pradeep,Kishor Polavarapu B Kavi,Kumar Are Ashok,Reddy Palakolanu Sudhakar 한국식물생명공학회 2024 Plant biotechnology reports Vol.18 No.2

Sorghum is considered a fifth major cereal, widely used as a multipurpose crop worldwide. The use of sorghum as a major forage crop is limited due to cyanogenic glycoside dhurrin in the vegetative shoot tissues. This cyanogenic glycoside is harm- ful to livestock when fed as fodder. The present study selected three sorghum genotypes for estimating hydrogen cyanide potential (HCNp) in vegetative tissues under well-watered (WW) conditions. The HCNp concentration varied from genotype to genotype and ranged from 364 to 512 ppm. The HCNp estimation was observed more in ICSR 14001 with 511 ppm, fol- lowed by ICSV 93046 (443 ppm) and CSH 24 MF (364 ppm). A significant difference was noticed between the genotypes. Sequence information of dhurrin biosynthesis pathway genes was retrieved and characterized using different bioinformatic tools. The gene expression analysis of dhurrin biosynthesis pathway genes showed different expression patterns, with the highest in ICSV 93046 and less in ICSR 14001 and CSH 24 MF. Genes CYP79A1, CYP71E1 and UGT85B1 showed a 2.5- to 4 fold increase in ICSV 93046 and no significant expression in ICSR 14001 and CSH 24 MF. The genotype CSH 24 MF observed a 1.5-fold increase in CYP79A1 gene expression, and the other genes observed no significant increase. This study assisted in identifying the contrasting genotypes inducing HCNp and the key genes of the dhurrin pathway producing hydrogen cyanide (HCN) under WW conditions, which can be used as potential candidates for gene editing, providing safe feed for the livestock.

Reidentification of pheromone composition of Sparganothis sulfureana (Clemens) and evidence of geographic variation in male responses from two US states

Junwei Zhu,Kye-Chung Park,Carolyn Garvey,Daniel Mahr,Satoshi Nojima,Wendell Roelofs,Tom Baker,Sridhar Polavarapu 한국응용곤충학회 2009 Journal of Asia-Pacific Entomology Vol.12 No.4

GC-EAD analyses of pheromone gland extracts of calling female Sparganothis sulfureana revealed at least 6 compounds that consistently elicited antennal responses from male antennae. In addition to the major pheromone compound, (E)-11-tetradecenyl acetate (E11–14:OAc), which was previously reported, the other compounds were found to be (E)-9-dodecenyl acetate (E9–12:OAc), (Z)-9-dodecenyl acetate (Z9–12:OAc), (Z)-9-tetradecenyl acetate (Z9–14:OAc), (Z)-11-tetradecenyl acetate (Z11–14:OAc), and (E)-11-tetradecenol (E11–14:OH). Tetradecyl acetate, hexadecyl acetate and hexadecenyl acetates were also present in the extracts, but elicited no EAG response frommale antennae. Wind tunnel tests demonstrated that males from NewJersey responded equally well to a blend containing five pheromone components in relative to the pheromone glands of calling females. Different male-response profiles from field-trapping tests conducted in the states of Wisconsin and NewJersey were observed, respectively. Significantly higher numbers of male S. sulfureana were caught in New Jersey in traps baited with the binary blend of E11–14:OAc (30 μg) with 1% of Z11–14:OAc, but males from Wisconsin responded equally well to traps containing blends of E11–14:OAc with 0–10% of Z11–14: OAc. The addition of more than 10% of Z11–14:OAc to the primary pheromone compound reduced male captures significantly in both states. Male catches were doubled by adding E9–12:OAc and E11–14:OH to the most attractive binary blend in both states. The trapping test with caged live virgin female moths showed that males in Wisconsin preferred females from the local population than those from NewJersey. The differences in male responses observed may indicate the existence of pheromone polymorphism in this species. GC-EAD analyses of pheromone gland extracts of calling female Sparganothis sulfureana revealed at least 6 compounds that consistently elicited antennal responses from male antennae. In addition to the major pheromone compound, (E)-11-tetradecenyl acetate (E11–14:OAc), which was previously reported, the other compounds were found to be (E)-9-dodecenyl acetate (E9–12:OAc), (Z)-9-dodecenyl acetate (Z9–12:OAc), (Z)-9-tetradecenyl acetate (Z9–14:OAc), (Z)-11-tetradecenyl acetate (Z11–14:OAc), and (E)-11-tetradecenol (E11–14:OH). Tetradecyl acetate, hexadecyl acetate and hexadecenyl acetates were also present in the extracts, but elicited no EAG response frommale antennae. Wind tunnel tests demonstrated that males from NewJersey responded equally well to a blend containing five pheromone components in relative to the pheromone glands of calling females. Different male-response profiles from field-trapping tests conducted in the states of Wisconsin and NewJersey were observed, respectively. Significantly higher numbers of male S. sulfureana were caught in New Jersey in traps baited with the binary blend of E11–14:OAc (30 μg) with 1% of Z11–14:OAc, but males from Wisconsin responded equally well to traps containing blends of E11–14:OAc with 0–10% of Z11–14: OAc. The addition of more than 10% of Z11–14:OAc to the primary pheromone compound reduced male captures significantly in both states. Male catches were doubled by adding E9–12:OAc and E11–14:OH to the most attractive binary blend in both states. The trapping test with caged live virgin female moths showed that males in Wisconsin preferred females from the local population than those from NewJersey. The differences in male responses observed may indicate the existence of pheromone polymorphism in this species.