mtDNAassociated Leigh syndrome affects the brain of afflicte

mtDNA-associated Leigh syndrome affects the brain of afflicted individuals and has an infantile onset. NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) has less severe symptoms with an onset in childhood. The same mtDNA mutation can cause both of these diseases. How can these differences in disease presentation, severity, and age of onset be explained for these two diseases?

Solution

1.The mutation related to NARP syndrome impacts the mitochondrial gene referred to as the ATPase 6 gene. Several mitochondrial genes which include the ATPase 6 gene can cause MILS.

2.When people have extra than 90 percentage of mutated mitochondrial DNA (mtDNA) in their cells, they are classified as having MILS and no longer NARP syndrome. Most individuals with NARP syndrome have 70-80 percentage of mutated mtDNA. In a few households, one man or woman may additionally have NARP syndrome while any other individual is identified with MILS.

3.symptoms of NARP symdrome are tingling, or pain in the arms and legs (sensory neuropathy); muscle weak point; and problems with balance and coordination (ataxia). Many affected individuals additionally have vision loss . In a few cases, the vision loss consequences from a situation called retinitis pigmentosa. This eye sickness causes the mild-sensing cells of the retina regularly to deteriorate.

As Leigh syndrome progresses, signs might also include generalized weak point, lack of muscle tone (hypotonia), and lactic acidosis, which may additionally cause impairment of respiration and kidney characteristic.

4.NARP usually presents in young adults.

Leigh syndrome usually begin between the ages of 3 months and 2 years.