My principal research endeavors are centered on deciphering the intricate mechanisms driving the pathophysiology of Barth Syndrome (BTHS), a life-threatening and rare congenital metabolic disorder. The etiology of this disease is traced to a mutation in the TAFAZZIN (TAZ) gene, which encodes the enzyme tafazzin. Tafazzin plays a critical role in remodeling cardiolipin (CL), a distinctive phospholipid localized to the inner mitochondrial membrane. BTHS manifests in a spectrum of clinical disorders, including cardiomyopathy, skeletal myopathy, neutropenia, and exercise intolerance. Recent discoveries from our laboratory, in collaboration with others, have revealed a profound reconfiguration of lipid, amino acid, and carbohydrate metabolic pathways. Additionally, we have identified significant deficiencies in the tricarboxylic acid (TCA) cycle in both yeast and mammalian cell models of BTHS, findings that are consistent with observations in BTHS patients.
I intend to explore the molecular mechanisms contributing to BTHS-associatedmyopathy and impaired muscle adaptation, utilizing Barth syndrome’s C2C12 mouse myoblast cell model.
More about Vikalp:
I am from Faridabad, Haryana, India. I obtained my bachelor’s degree in Microbiology from Delhi University, New Delhi, and my master’s degree in Molecular medicine from Jawaharlal Nehru University, New Delhi, India. I love to make new friends, explore diverse cultures, and believe in science and discoveries! One of my favorite hobbies is randomly reading research articles published in any science discipline. Outside the lab, I enjoy going on nature walks, hanging out with my friends, and listening to music.
