Genetic disorder and Treatment

Context

A two-and-a-half-year-old girl has shown no signs of a genetic disorder — known as spinal muscular atrophy (SMA) — becoming the first person in the world to be treated for the disease while in the womb.

What is Spinal Muscular Atrophy (SMA)?

Spinal Muscular Atrophy (SMA) is a severe genetic disorder that causes the progressive weakening of muscles due to the degeneration of motor neurons, which are responsible for controlling movement.
This condition is caused by mutations in the SMN1 gene, leading to a deficiency of survival motor neuron (SMN) protein, which is essential for the health and function of motor neurons.
As a result, individuals with SMA experience muscle wasting, difficulty in movement, and in severe cases, respiratory failure.
SMA is the leading genetic cause of death in infants and children, with SMA type 1 being the most severe form, where symptoms start in infancy and can lead to death by the age of 2-3 years.
It affects about 1 in 10,000 births.

How Was SMA Treated While in the Womb?

For the first time, SMA has been treated in utero — during pregnancy — in an innovative trial. The treatment involved administering a drug called Risdiplam, which targets the root cause of SMA by increasing the production of the SMN protein.
- Risdiplam is typically given to patients after birth, and it is most effective when started early.
- In this case, the drug was administered to the mother at 32 weeks of pregnancy. The mother took the drug daily for six weeks, and soon after birth, the baby began taking the drug as well.
As a result of the treatment, the baby showed higher levels of the SMN protein compared to typical SMA-1 patients. The girl displayed normal muscle development and had no sign of muscle atrophy at 30 months, a remarkable improvement.

Genetic Disorders

Genetic diseases are due to mutations in genes or chromosomal alterations.
Genomes consist of genetic materials, or DNA (deoxyribonucleic acid), which holds the instructions for protein synthesis that determine cell functions and the characteristics of living organisms.
DNAs are inherited from both parents; hence one can inherit mutated genes from them.
Some genetic diseases may manifest symptoms at birth, while others may develop symptoms later in life.
Types of genetic disorders
- Monogenic disorders are secondary to a mutation in one specific gene.
- Multifactorial disorders are due to multigene mutations and environmental factors such as dietary choices, certain medications, chemical exposure, smoking, and alcohol consumption.
- Chromosomal disorders from missing or extrachromosomal materials.

PYQ

Q. In the context of hereditary diseases, consider the following statements: (2021)

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

Which of the statements given above is/are correct?

1 only
2 only
Both 1 and 2
Neither 1 nor 2

Solution: (c)

The RTI is now the ‘right to deny information’

Polity & Governance Important Acts & Bills

Fencing out interfaith relationships in the new India