Niemann-Pick Disease

Why in news?

• Parents of children suffering from Niemann-Pick disease have urged the Government of India to notify this disease under the National Policy for Rare Diseases.

About Niemann-Pick Disease

• Niemann-Pick disease is a group of rare and inherited metabolic disorders that affect the body’s ability to process lipids or fats properly.
• This buildup of lipids can lead to a wide range of symptoms including liver and spleen enlargement, lung problems, neurological issues, and other complications.
• Niemann-Pick is caused by mutations in specific genes related to how the body metabolizes fat (cholesterol and lipids). 
• The Niemann-Pick gene mutations are passed from parents to children in a pattern called autosomal recessive inheritance. 
• This means that both the mother and the father must pass on the defective form of the gene for the child to be affected.
• There is currently no cure for Niemann-Pick disease.

About Autosomal Recessive Inheritance

• Autosomal recessive inheritance is one of the patterns of inheritance for genetic traits.
• Autosomal recessive traits are caused by recessive alleles of a gene. This means that an individual must inherit two copies of the recessive allele (one from each parent) to express the trait. If an individual has only one copy of the recessive allele and one copy of the dominant allele, they will be a carrier and not exhibit the trait.
• Autosomal recessive traits do not show a gender bias. They affect both males and females equally.
• Autosomal recessive conditions are more likely to be observed in populations with a high degree of consanguinity(marriage between close relatives) because it increases the chances of both parents carrying the same recessive allele.

PRACTICE QUESTION:

Consider the following statements regarding Niemann-Pick disease:

1. It is caused by mutations in specific genes related to how the body metabolizes fat.
2. Both the mother and the father must pass on the defective form of the gene for the child to be affected.

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

Answer