Neuropathy, ataxia, and retinitis pigmentosa (NARP) is a disease featuring weakness of

the muscles near the trunk, ataxia (wobbliness), retinal disease, seizures and
developmental delay. (MedicineNet, 2020)
According to Miranda, G. (2018), NARP is caused by mutations in the MT-ATP6 gene
that is contained in the mitochondrial DNA (mtDNA). While the main function of
mitochondria is energy production, it also contains a small amount of DNA. The MT-
ATP6 gene is responsible for ensuring efficient mitochondrial function through regular
protein production and formulation of ATP synthase, the last step in the creation of
adenosine triphosphate (ATP), which is the cell’s main source of energy. When
mutations in the MT-ATP6 gene develop, the ability of mitochondria to create enough
ATP reduces.

The U.S. National Library of Medicine [NIH] (2018) stated that this condition usually
begins in childhood or early adulthood while the signs and symptoms usually worsen
over time. Some of the early signs and symptoms as stated by NIH include problems
with balance and coordination (ataxia), pain, tingling, or numbness in the arms and legs
(sensory neuropathy), nerve diseases outside the central nervous system (peripheral
neuropathy), and loss of vision caused by changes in light-sensitive tissues or by
retinitis pigmentos. Individuals who may have NARP might have a problem with balance
and coordination.

According to DoveMed (2018), inherited genetic mutation is the most important risk
factor for Neuropathy, Ataxia, and Retinitis Pigmentos. Neuropathy, ataxia, and retinitis
pigmentosa is a condition related to changes in mitochondrial DNA. Mutations in
the MT-ATP6 gene cause neuropathy, ataxia, and retinitis pigmentosa. The MT-
ATP6 gene provides instructions for making a protein that is essential for normal
mitochondrial function. Through a series of chemical reactions, mitochondria use
oxygen and simple sugars to create adenosine triphosphate (ATP), the cell's main
energy source. The MT-ATP6 protein forms one part (subunit) of an enzyme called ATP
synthase, which is responsible for the last step in ATP production. Mutations in the MT-
ATP6 gene alter the structure or function of ATP synthase, reducing the ability of
mitochondria to make ATP. It remains unclear how this disruption in mitochondrial
energy production leads to the other specific features of NARP including muscle
weakness, vision loss.
References

Reference, G. (2020). NARP. Retrieved 9 September 2020, from

https://ghr.nlm.nih.gov/condition/neuropathy-ataxia-and-retinitis-pigmentosa#

Gaea Marelle Miranda, M. (2020). Neuropathy, Ataxia and Retinitis Pigmentosa (NARP Syndrome).
Retrieved 9 September 2020, from https://www.news-medical.net/health/Neuropathy-Ataxia-and-Retinitis-
Pigmentosa-(NARP-Syndrome).aspx

https://www.dovemed.com/diseases-conditions/neuropathy-ataxia-and-retinitis-
pigmentosa-narp/