Enter Your Search:
Results 1-3 (3)
Go to page number:
Select a Filter Below
Annals of Indian Academy of Neurology (1)
BMC Genomics (1)
PLoS ONE (1)
Vanniarajan, Ayyasamy (3)
Chaubey, Gyaneshwer (1)
Desouki, Mohamad Mokhtar (1)
Gayathri, Narayanappa (1)
Goyal, Manoj K. (1)
Karkare, Kalyani (1)
Kulawiec, Mariola (1)
Owens, Kjerstin M. (1)
Pandey, Siyaram (1)
Ravishankar, Shivashankar (1)
Reddy, Alla G (1)
Singh, Keshav K. (1)
Singh, Lalji (1)
Singh, Vijay Kumar (1)
Sinha, Sanjib (1)
Taly, Arun B. (1)
Thangaraj, Kumarasamy (1)
Thangaraj, Kumarswamy (1)
Thanseem, Ismail (1)
Vijayan, Joy (1)
Yasha, T. Chikkabasavaiah (1)
Year of Publication
Impaired OXPHOS Complex III in Breast Cancer
Owens, Kjerstin M.
Desouki, Mohamad Mokhtar
Singh, Keshav K.
We measured the mitochondrial oxidative phosphorylation (mtOXPHOS) activities of all five complexes and determined the activity and gene expression in detail of the Complex III subunits in human breast cancer cell lines and primary tumors. Our analysis revealed dramatic differences in activity of complex III between normal and aggressive metastatic breast cancer cell lines. Determination of Complex III subunit gene expression identified over expression and co-regulation of UQCRFS1 (encoding RISP protein) and UQCRH (encoding Hinge protein) in 6 out of 9 human breast tumors. Analyses of UQCRFS1/RISP expression in additional matched normal and breast tumors demonstrated an over expression in 14 out of 40 (35%) breast tumors. UQCRFS1/RISP knockdown in breast tumor cell line led to decreased mitochondrial membrane potential as well as a decrease in matrigel invasion. Furthermore, reduced matrigel invasion was mediated by reduced ROS levels coinciding with decreased expression of NADPH oxidase 2, 3, 4 and 5 involved in ROS production. These studies provide direct evidence for contribution of impaired mtOXPHOS Complex III to breast tumorigenesis.
Epilepsia partialis continua in mitochondrial dysfunction: Interesting phenotypic and MRI observations
Yasha, T. Chikkabasavaiah
Goyal, Manoj K.
Taly, Arun B.
Annals of Indian Academy of Neurology
An 11-year-old girl manifested with photophobia, ptosis, external ophthalmoplegia, hypotonia, weakness of proximal limb muscles, hyporeflexia, and generalized seizures (six months). Her elder sister had had uncontrolled seizures and photophobia and died at seven years of age. In the patient, serum lactate was high (55 mg/dl). Muscle biopsy revealed characteristic ragged red and ragged blue fibers, diagnostic of mitochondrial cytopathy. Sequencing of the complete mitochondrial genome of the DNA obtained from the muscle biopsy of the patient did not show any characteristic mutation. Four months later, the girl was admitted with a one-week history of epilepsia partialis continua (EPC). EEG revealed Periodic Lateralized Epileptiform Discharges (PLEDs), once in 2-4 seconds, over the right temporo-occipital leads. MRI revealed signal change of right motor cortex, which had restricted diffusion. MR spectroscopy (MRS) from this region revealed lactate peak. EPC remained refractory to multiple anti-epileptic drugs, immuno-modulators, coenzyme-Q, and carnitine. This thought provoking report expands the spectrum of mitochondrial cytopathies.
Chronic progressive external ophtalmoplegia; epilepsia partialis continua; mitochondrial dysfunction; Mitochondrial Encephalopathy with Ragged Red Fiber; MRI; periodic lateralized epileptiform discharges
In situ origin of deep rooting lineages of mitochondrial Macrohaplogroup 'M' in India
Singh, Vijay Kumar
Reddy, Alla G
Macrohaplogroups 'M' and 'N' have evolved almost in parallel from a founder haplogroup L3. Macrohaplogroup N in India has already been defined in previous studies and recently the macrohaplogroup M among the Indian populations has been characterized. In this study, we attempted to reconstruct and re-evaluate the phylogeny of Macrohaplogroup M, which harbors more than 60% of the Indian mtDNA lineage, and to shed light on the origin of its deep rooting haplogroups.
Using 11 whole mtDNA and 2231 partial coding sequence of Indian M lineage selected from 8670 HVS1 sequences across India, we have reconstructed the tree including Andamanese-specific lineage M31 and calculated the time depth of all the nodes. We defined one novel haplogroup M41, and revised the classification of haplogroups M3, M18, and M31.
Our result indicates that the Indian mtDNA pool consists of several deep rooting lineages of macrohaplogroup 'M' suggesting in-situ origin of these haplogroups in South Asia, most likely in the India. These deep rooting lineages are not language specific and spread over all the language groups in India. Moreover, our reanalysis of the Andamanese-specific lineage M31 suggests population specific two clear-cut subclades (M31a1 and M31a2). Onge and Jarwa share M31a1 branch while M31a2 clade is present in only Great Andamanese individuals. Overall our study supported the one wave, rapid dispersal theory of modern humans along the Asian coast.
Results 1-3 (3)
Go to page number:
Remove citation from clipboard
Add citation to clipboard
This will clear all selections from your clipboard. Do you wish proceed?
Clipboard is full! Please remove an item and try again.
PubMed Central Canada is a service of the
Canadian Institutes of Health Research
(CIHR) working in partnership with the National Research Council's
Canada Institute for Scientific and Technical Information
in cooperation with the
National Center for Biotechnology Information
U.S. National Library of Medicine
(NCBI/NLM). It includes content provided to the
PubMed Central International archive
by participating publishers.