Swati Sharma

DRDO, Molecular Biology, Graduate Student

Panjab University, Chandigarh(India), Department of Biochemistry, Graduate Student

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Ph.D. in Biochemistry, working in the field of Mitochondrial genetics and biochemistry during hypobaric hypoxia stress at high altitude. Experienced in NGS data analysis with a demonstrated history of working on mitochondrial mutations associated with high altitude malady, HAPE. Skilled in Research and Development, Bioinformatic analysis, human mitochondrial sequencing analysis, and association of variants. Strong research professional with a good publications record. Actively Looking for postdoctoral opportunities.
Supervisors: Proff.Rajat Sandhir and Dr.Yamini Singh
Phone: 9953089583

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Papers by Swati Sharma

Mitochondrial DNA mutations contribute to high altitude pulmonary edema via increased oxidative stress and metabolic reprogramming during hypobaric hypoxia.

by Swati Sharma and Yamini Singh

Biochim Biophys Acta Bioenergetics, 2021

High altitude pulmonary edema (HAPE) is experienced by non-acclimatized sea level individuals on ... more High altitude pulmonary edema (HAPE) is experienced by non-acclimatized sea level individuals on exposure to high altitude hypoxic conditions. Available evidence suggests that genetic factors and perturbed mitochondrial redox status may play an important role in HAPE pathophysiology. However, the precise mechanism has not been fully understood. In the present study, sequencing of mitochondrial DNA (mtDNA) from HAPE subjects and acclimatized controls was performed to identify pathogenic mutations and to determine their role in HAPE. Hypobaric hypoxia induced oxidative stress and metabolic alterations were also assessed in HAPE subjects. mtDNA copy number, mitochondrial oxidative phosphorylation (mtOXPHOS) activity, mitochondrial biogenesis were measured to determine mitochondrial functions. The data revealed that the mutations in Complex I genes affects the secondary structure of protein in HAPE subjects. Further, increased oxidative stress during hypobaric hypoxia, reduced mitochondrial biogenesis and mtOXPHOS activity induced metabolic reprogramming that might contribute to mitochondrial dysfunctions in HAPE individuals. Haplogroup analysis suggests that mtDNA haplogroup H2a2a1 has potential contribution in the pathobiology of HAPE in lowlanders. This study suggests contribution of altered mitochondrial functions in HAPE susceptibility.

Mitochondrial DNA sequencing reveals association of variants and haplogroup M33a2′3 with High altitude pulmonary edema susceptibility in Indian male lowlanders

Scientific Reports, 2019

High Altitude Pulmonary Edema (HAPE) is a threatening disorder caused due to acute exposure to hi... more High Altitude Pulmonary Edema (HAPE) is a threatening disorder caused due to acute exposure to high
altitude above 3000m. Apart from multiple factors involved, the genetic factors also play an important
function in the pathogenesis of HAPE. This study aims to evaluate the role of mtDNA polymorphism
and their association with haplogroup in understanding the etiology of HAPE. In this study, all the
HAPE susceptible and acclimatized control subjects could be classifed into nine haplogroups pertaining
mostly to Macrohaplogroup M and U. The frequency of haplogroup M was signifcantly higher in HAPE
susceptibles whereas the haplogroup M33a2′3 was found only in HAPE susceptibles. The variant
G4491A and A4944G of MT-ND2, A14002G of MT-ND5, and C8562T of MT-ATP8, were defnition site of
haplogroup M33a2′3. The frequency of A10398G of MT-ND3, A8701G of MT-ATP6 and C14766T of MTCYB
genes were signifcantly higher in HAPE susceptibles. mtDNA copy number also plays a signifcant
synergistic role in HAPE susceptibility. Our fndings suggests that variants in MT-ND2 and MT-ND5 were
predicted to confer decreased protein stability in HAPE susceptibles and in particular, highly conserved
variants G4491A, A4944G and A14002G associated with haplogroup M33a2′3 may be the primary cause
of susceptibility to HAPE in Indian male lowlanders.

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