Question map
In the context of hereditary diseases, consider the following statements : 1. Passing on mitochondrial diseases from parent to child can be prevented by mitochondrial replacement therapy either before or after in vitro fertilization of egg. 2. A child inherits mitochondrial diseases entirely from mother and not from father. Which of the statements given above is/are correct?
Explanation
The correct answer is Option 3 (Both 1 and 2). This is based on the biological mechanisms of mitochondrial inheritance and advanced reproductive technologies.
- Statement 1 is correct: Mitochondrial Replacement Therapy (MRT) aims to prevent the transmission of mitochondrial diseases. It can be performed through Pronuclear Transfer (after fertilization, where nuclei are transferred from the motherโs zygote to a donor zygote) or Maternal Spindle Transfer (before fertilization, where the nuclear DNA is removed from the motherโs egg and inserted into a donor egg).
- Statement 2 is correct: In humans, mitochondria are inherited exclusively from the mother. During fertilization, the sperm's mitochondria are typically located in the tail, which is either lost or destroyed by the egg's cytoplasm (autophagy) upon entry. Therefore, mitochondrial DNA (mtDNA) mutations are passed down solely through the maternal line.
Since both statements accurately describe the clinical application of MRT and the biological reality of uniparental inheritance, Option 3 is the right choice.
PROVENANCE & STUDY PATTERN
Full viewThis question is a classic 'Science in Context' trap. While technically nuclear DNA can cause mitochondrial issues, the context of MRT (Three-parent baby) restricts the scope to mitochondrial DNA (mtDNA). The strategy is to read statements as a coherent narrative: Statement 1 (the cure) only makes sense if Statement 2 (the cause) is true.
This question can be broken into the following sub-statements. Tap a statement sentence to jump into its detailed analysis.
- Statement 1: In the context of hereditary mitochondrial diseases, can mitochondrial replacement therapy prevent transmission of mitochondrial diseases from a parent to their child?
- Statement 2: In the context of hereditary mitochondrial diseases, does mitochondrial replacement therapy include procedures performed both before fertilization (spindle transfer) and after fertilization (pronuclear transfer) during IVF to prevent disease transmission?
- Statement 3: In the context of hereditary mitochondrial diseases, are mitochondrial diseases inherited entirely from the mother with no paternal contribution?
- Explicitly states MRT can be used to prevent inheritance of mitochondrial diseases caused by variants in mitochondrial DNA.
- Explains the biological rationale (mitochondria are passed via the egg), which underlies how MRT can prevent transmission.
- Clarifies the scope and limitation of MRT by noting it does not prevent diseases caused by variants in nuclear DNA.
- Helps specify that MRT prevents transmission only for mtDNA-based (not nuclear DNAโbased) mitochondrial diseases.
- Summarizes the purpose of MRT as enabling prospective parents to avoid passing down mitochondrial diseases to their children.
- Frames MRT as a reproductive technique explicitly aimed at reducing transmission of certain serious mitochondrial conditions.
Explains that specialised reproductive cells (gametes) carry genetic material and that offspring get genetic material via gametes.
A student can combine this with the external fact that mitochondria (and their DNA) are primarily transmitted via the egg cytoplasm to reason that altering the egg's cytoplasm (as in mitochondrial replacement) could change mitochondrial inheritance.
Notes that each baby gets a mix of genetic information from both parents through gametes and that gametes determine inherited traits.
Use the idea that traits depend on gamete contents to infer that replacing the egg's mitochondrial content might prevent transmission of maternal mitochondrial variants.
States the general rule that both parents contribute genetic material and rules govern inheritance of traits.
A student could apply the concept of inheritance rules to consider a special case (non-nuclear inheritance) where only one parent's cytoplasmic elements are passed on, and therefore targeted replacement might alter transmission.
Poses the question of how equal genetic contribution is ensured, highlighting that mechanisms of gamete formation determine what is passed on.
From this, a student may reason that because gamete formation/mechanisms control inheritance, interventions at the gamete/egg level (mitochondrial replacement) could influence what is transmitted.
Provides an example where an intervention (condom) reduces transmission of disease during sexual activity.
As an analogy, a student could extrapolate that medical interventions exist that can prevent biological transmission, prompting investigation into whether a parallel intervention (mitochondrial replacement) could prevent hereditary transmission.
- Directly names the two MRT methods: maternal spindle transfer (MST) and pronuclear transfer (PNT).
- Describes MST as transplanting the mother's nuclear DNA into an unfertilized donor egg (i.e., before fertilization).
- States the purpose of MRT is to prevent inheritance of mitochondrial diseases caused by mitochondrial DNA variants.
- Supports the claim that MRT is used in the context of preventing disease transmission to offspring.
- Explains the outcome of MRT as creating a 'hybrid' egg with nuclear DNA from one person and mitochondrial DNA from another.
- Connects MRT procedures to the goal of reducing mitochondrial disease in future generations.
Mentions mitochondrial DNA (mt-DNA) as a distinct genetic material used to trace lineages, showing mtDNA is a recognizable hereditary component.
A student could combine this with the standard fact that mtDNA is inherited via the egg to infer that replacing mtDNA in the egg or early embryo might prevent transmission.
Explains that parents produce specialised gametes (eggs and sperm) that carry halves of genetic material and join to form a new cell, highlighting the distinction between pre-fertilization (egg) and post-fertilization (zygote) stages.
By noting the egg is a distinct manipulable gamete, a student could see why a technique applied to the egg before fertilization (spindle transfer) differs from one done after fertilization (pronuclear transfer).
Describes how germ cells take one chromosome from each pair and how fertilization restores the full chromosome set, illustrating the biological difference between processes acting on gametes versus on the fertilized cell.
A student could extend this to reason that interventions can be targeted either at germ cells (pre-fertilization) or at the combined cell (post-fertilization) to alter hereditary material passed on.
Refers to 'rules of heredity' governing how traits are inherited, providing a general framework that hereditary diseases follow predictable transmission patterns.
A student could apply these rules plus the specific maternal nature of mtDNA to evaluate whether manipulating the egg or embryo could interrupt predictable transmission of mitochondrial disease.
States the principle 'Prevention is better than cure,' which supports the idea of preventive medical interventions to stop disease transmission rather than treating disease after onset.
A student could use this policy/ethical guideline together with biological clues to justify investigating preventive techniques applied before or shortly after fertilization to avoid inheritable mitochondrial disease.
- Explicitly states that mitochondrial DNA is always inherited from the mother, supporting the idea that mtDNA-based disease transmission is maternal.
- Shows that maternal relatives share the same mitochondrial genome, indicating no paternal mtDNA contribution.
- Clarifies there are two genetic sources relevant to mitochondria: nuclear DNA and mitochondrial DNA.
- States that mutations in either nuclear DNA (inherited from both parents) or mitochondrial DNA (maternal) can cause mitochondrial disease, indicating paternal contribution via nuclear genes is possible.
- Notes that techniques to prevent mtDNA disease rely on mitochondria being passed via the egg and not the sperm, reinforcing maternal-only inheritance of mtDNA.
- Provides context for maternal transmission of mtDNA while implying interventions target the egg to prevent maternal transmission.
Mentions mitochondrial DNA (mt-DNA) studies used to trace prehistoric migrations, highlighting mt-DNA as a distinct genetic marker.
A student could combine this with the basic fact that mtDNA is often used to trace maternal lineages (because it is transmitted in a particular way) to investigate whether mtDNA โ and thus mitochondrial diseases โ show maternal-only inheritance.
Explains the general rule that nuclear chromosomes come one each from mother and father and that germ cells carry one chromosome of each pair.
By contrasting this biparental nuclear inheritance with mt-DNA as a separate entity, a student could explore whether mitochondria/mtDNA follow the same biparental pattern or an exception (e.g., maternal-only transmission).
States the general rule that both father and mother contribute practically equal amounts of genetic material to the child for most traits.
A student can use this general rule as a baseline and then look for exceptions (like organelle genomes) to test if mitochondrial traits deviate from equal parental contribution.
Describes how gametes carry half the parent's genetic material and combine to give a full nuclear genome.
A student could use this description of nuclear gamete contribution to ask whether mitochondrial genomes are included in that gametic mixing or are transmitted by a different mechanism (e.g., predominantly via egg cytoplasm).
- [THE VERDICT]: Conceptual Trap / Applied Science. The news was 'Three-parent baby' (circa 2016), but the question tested the biological mechanism (nuclear transfer) and inheritance rules.
- [THE CONCEPTUAL TRIGGER]: Biotechnology > Assisted Reproductive Technologies (ART). Specifically, the distinction between Nuclear Inheritance (Mendelian/Biparental) and Cytoplasmic Inheritance (Maternal).
- [THE HORIZONTAL EXPANSION]: 1. Maternal Spindle Transfer (MST) = Pre-fertilization (Egg repair). 2. Pronuclear Transfer (PNT) = Post-fertilization (Zygote repair). 3. mtDNA properties: Circular, maternal, high mutation rate, no introns. 4. 'Three-parent baby' involves 3 genetic parents: Mother (nucleus), Father (sperm), Donor (mitochondria). 5. Germline modification ethics.
- [THE STRATEGIC METACOGNITION]: Don't just memorize 'MRT is allowed'. Ask the mechanical questions: What is moved? (Nucleus). What is left behind? (Faulty Mitochondria). Why? (Because Mitochondria are in the cytoplasm, which comes from the egg). This logic chain answers both statements.
Gametes carry only half the genetic material and fuse at fertilization to form a complete genome, which is the basis for understanding what parental components are inherited by the child.
High-yield for questions on inheritance and reproductive technologies: explains why nuclear genetic contribution is split between parents and helps distinguish nuclear inheritance from any cytoplasmic or organellar inheritance in exam scenarios. Links to broader topics like reproduction, genetic counseling, and assisted reproductive techniques.
- Science ,Class VIII . NCERT(Revised ed 2025) > Chapter 13: Our Home: Earth, a Unique Life Sustaining Planet > Special cells for reproduction > p. 221
- Science ,Class VIII . NCERT(Revised ed 2025) > Chapter 13: Our Home: Earth, a Unique Life Sustaining Planet > Special cells for reproduction > p. 222
Each parent contributes practically equal amounts of nuclear genetic material, so Mendelian rules govern many inherited traits and frame comparisons with non-Mendelian inheritance patterns.
Essential for UPSC biology questions that contrast Mendelian (nuclear) inheritance with non-Mendelian forms; mastering this enables tackling questions on inheritance patterns, genetic disorders, and implications of interventions that alter inheritance.
- Science , class X (NCERT 2025 ed.) > Chapter 8: Heredity > 8.2.2 Rules for the Inheritance of Traits โ Mendel's Contributions > p. 129
- Science , class X (NCERT 2025 ed.) > Chapter 8: Heredity > EXERCISES > p. 133
Mixing of different parental genetic instructions at gamete fusion produces variation among siblings, a key concept when evaluating interventions aimed at altering which hereditary components are transmitted.
Useful for framing policy and ethical discussions in UPSC answers about assisted reproduction and hereditary disease prevention; connects heredity basics to societal implications and biotechnology debates.
- Science ,Class VIII . NCERT(Revised ed 2025) > Chapter 13: Our Home: Earth, a Unique Life Sustaining Planet > Special cells for reproduction > p. 222
- Science ,Class VIII . NCERT(Revised ed 2025) > Chapter 13: Our Home: Earth, a Unique Life Sustaining Planet > Special cells for reproduction > p. 221
mtDNA provides maternal-lineage markers used to reconstruct prehistoric human dispersals.
High-yield for questions linking genetics with human history and population movements; connects genetics, archaeology and anthropology; enables tackling questions on genetic markers, lineage tracing and evolution.
- History , class XI (Tamilnadu state board 2024 ed.) > Chapter 1: Early India: From the Beginnings to the Indus Civilisation > Sources > p. 1
Specialized reproductive cells carry half the parent's genetic material and combine to form a full complement in the offspring.
Core concept for heredity and reproductive biology questions; links to Mendelian inheritance, assisted reproduction topics and basic genetic disorder transmission; useful for reasoning questions about inheritance patterns and reproductive technologies.
- Science ,Class VIII . NCERT(Revised ed 2025) > Chapter 13: Our Home: Earth, a Unique Life Sustaining Planet > Special cells for reproduction > p. 221
Each cell contains two copies of each chromosome; germ cells contribute one copy from each pair so offspring inherit chromosomes from both parents.
Essential for understanding genetic disorders, karyotype issues and Mendelian principles; connects cytogenetics, population genetics and clinical genetics question types.
- Science , class X (NCERT 2025 ed.) > Chapter 8: Heredity > separate traits, shape and colour of seeds Figure 8.5 > p. 132
mtDNA provides genetic information used to trace maternal ancestry and human migrations.
High-yield for questions linking genetics with human evolution, population movements, and lineage tracing; helps distinguish organelle-based inheritance from nuclear inheritance and frames questions about maternal lines in history and biology.
- History , class XI (Tamilnadu state board 2024 ed.) > Chapter 1: Early India: From the Beginnings to the Indus Civilisation > Sources > p. 1
The ethical distinction between the two MRT types: Pronuclear Transfer (PNT) involves creating and then destroying an embryo (ethically controversial), whereas Maternal Spindle Transfer (MST) manipulates the unfertilized egg (less controversial).
Use 'Contextual Dependency'. Statement 1 claims MRT prevents the disease. MRT works by swapping the mother's egg cytoplasm. If Statement 2 were false (i.e., if fathers also transmitted the disease via sperm), then MRT would not be a valid 'prevention' method. For Statement 1 to be scientifically sound, Statement 2 must be true. They stand or fall together.
GS4 Ethics & Essay: The 'Slippery Slope' argument. If we allow germline modification for MRT (Therapy), does it open the door to CRISPR-based 'Designer Babies' (Enhancement)?