Innovations in Biotechnology and Medical Sciences

Mitochondrial Genome (mtDNA)

Note4Students

From UPSC perspective, the following things are important :

Prelims level: Mitochondria, mtDNA

Why in the News?

Recent research indicates that age-related losses in our cell’s mitochondrial DNA (mtDNA)—specifically, deletion mutations—could be a major driver of aging. These mutations, once they accumulate, reduce the mitochondrion’s ability to produce energy (ATP), causing cell and tissue dysfunction.

Mitochondrial Genome (mtDNA)

What are Mitochondria?

  • Mitochondria generate most of the cell’s energy (hence called the Powerhouse) in the form of ATP (adenosine triphosphate).
  • They originated from free-living bacteria absorbed by ancient single-celled organisms, retaining a fraction of their own DNA (mtDNA).
  • Unlike nuclear DNA, mitochondria have their own circular DNA, though limited in size.
  • Humans inherit mitochondria exclusively from the mother’s egg; sperm-contributed mitochondria are generally not passed on.
  • They have a double membrane: a relatively permeable outer membrane and a highly folded inner membrane (cristae) that maximizes surface area for energy production.
    • Their inner compartment, the mitochondrial matrix, houses mitochondrial DNA (mtDNA), ribosomes, and enzymes for the Krebs cycle (citric acid cycle) and fatty acid β-oxidation.
  • Mitochondria help regulate intracellular calcium levels, which is crucial for various signalling pathways.
  • They play a role in apoptosis (programmed cell death) by releasing factors such as cytochrome c when the cell is under severe stress.

Functions of DNA, mRNA, and the gene:

  • DNA (Deoxyribonucleic Acid):
    • Blueprint of Life: Houses genetic instructions in the form of a sequence of bases (A, T, G, C).
    • Chromosomal Structure: In the nucleus, it is organized into 23 pairs of chromosomes in humans, each carrying numerous genes.
    • Base-Pairing: Two DNA strands form a double helix via base-pair bonding (A-T, G-C).
  • Gene:
    • Functional Unit of DNA: A stretch of DNA containing instructions (a few thousand base-pairs) for making proteins or functional RNA.
    • Expression: When active, a gene is ‘read’ and transcribed into mRNA.
  • mRNA (Messenger RNA):
    • Intermediate Molecule: Carries the gene’s instructions from the DNA (in the nucleus) to the cytoplasm.
    • Protein Synthesis: Ribosomes read mRNA sequences, translating them into specific proteins.

Functions of the Mitochondrial Genome (mtDNA):

  • Encodes Key Mitochondrial Proteins:
    • The mtDNA has 13 protein-coding genes crucial for mitochondrial energy production (ATP synthesis).
    • It also encodes 24 non-coding genes (like rRNAs and tRNAs), essential for mitochondrial protein synthesis.
  • Energy Production:
    • mtDNA-encoded proteins form part of the electron transport chain, where most ATP is produced.
  • Distinct Inheritance Pattern:
    • Inherited exclusively from the mother.
    • Each cell contains multiple mitochondria, each with multiple copies of mtDNA.
  • Implication in Aging and Disease:
    • Age-related mutations (deletions, chimeric genes) in mtDNA can lead to functional decline in tissues like muscle and brain.
    • Loss of intact mtDNA reduces ATP generation, contributing to cellular and tissue ageing.

PYQ:

[2021] In the context of hereditary diseases, consider the following statements:

  1. Passing on mitochondrial diseases from parent to child can be prevented by mitochondria replacement therapy either before or after in vitro fertilization of the egg.
  2. A child inherits mitochondrial diseases entirely from mother and not from father.

Which of the statements given above is/are correct?

(a) 1 only
(b) 2 only
(c) Both 1 and 2
(d) Neither 1 nor 2

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