Neuropathy ataxia and retinitis pigmentosa

A mitochondrial myopathy characterized by sensory neuropathy (pain, numbness, or tingling) in the arms and legs beginning in childhood or early adulthood, MUSCLE WEAKNESS, ATAXIA, and vision loss due to retinitis pigmentosa. Affected children may also present with LEARNING DISABILITIES and older adults may experience DEMENTIA. Mutations in the MTATP6 gene have been identified. OMIM: 551500

Also Known As:

Networked: 56 relevant articles (0 outcomes, 6 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Neuropathy ataxia and retinitis pigmentosa
2.	Retinitis Pigmentosa (Pigmentary Retinopathy)
3.	Leigh Disease (Leigh's Disease)
4.	Ataxia (Dyssynergia)
5.	Osteosarcoma (Osteogenic Sarcoma)

Experts

1.	Szczepanowska, Joanna: 5 articles (06/2015 - 06/2010)
2.	Wojewoda, Marta: 5 articles (06/2015 - 06/2010)
3.	di Rago, Jean-Paul: 4 articles (01/2019 - 11/2007)
4.	Duszyński, Jerzy: 4 articles (06/2015 - 06/2010)
5.	Baracca, Alessandra: 4 articles (08/2009 - 02/2002)
6.	Lenaz, Giorgio: 4 articles (08/2009 - 02/2002)
7.	Solaini, Giancarlo: 4 articles (08/2009 - 02/2002)
8.	Carelli, Valerio: 3 articles (12/2021 - 02/2002)
9.	Kucharczyk, Roza: 3 articles (01/2019 - 05/2009)
10.	Sgarbi, Gianluca: 3 articles (08/2009 - 05/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Neuropathy ataxia and retinitis pigmentosa:

1.	Mitochondrial DNA (mtDNA)IBA 01/01/2018 - "Mutations in the MT-ATP6 gene of mtDNA have been shown to cause NARP syndrome without renal involvement. " 01/01/2016 - "Analysis of these populations demonstrated an altered metabolic signature in cells harbouring decreased levels of mutant m.8993T>G mtDNA, associated with neuropathy, ataxia, and retinitis pigmentosa (NARP). " 01/01/2015 - "Chemical analysis of the respiratory chain complexes in her muscle specimen demonstrated lower activities of complexes I and V. In our case, novel mutation of m.8729 G>A in mtDNA was indicated as the cause of NARP syndrome." 10/01/2007 - "Stability of the m.8993T->G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome." 12/15/2001 - "Although this approach is limited by the presence of mutation-specific restriction sites, patients with neuropathy, ataxia and retinitis pigmentosa (NARP) could benefit from it, as the T8399G mutation creates a unique restriction site that is not present in wild-type human mitochondrial DNA."
2.	Adenosine Triphosphatases (ATPase)IBA 07/01/2001 - "Neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome and maternally inherited Leigh's syndrome have been associated with T8993G point mutations in the mitochondrial adenosine triphosphatase 6 gene. " 09/01/2013 - "One member of a pedigree with NARP syndrome (neurogenic weakness, ataxia, and retinitis pigmentosa), a mitochondrial disorder due to a point mutation at position 8993 in the mitochondrial genome ATPase 6 gene, was reevaluated some 20 years after first being reported in the medical literature. " 01/15/2010 - "Mutations in the mitochondrial DNA (mtDNA) encoded subunit 6 of ATPase (ATP6) are associated with variable disease expression, ranging from adult onset neuropathy, ataxia and retinitis pigmentosa (NARP) to fatal childhood maternally inherited Leigh's syndrome (MILS). " 07/01/2008 - "Mitochondrial F(1)F(0)-ATPase was studied in lymphocytes from patients with neuropathy, ataxia, and retinitis pigmentosa (NARP), caused by a mutation at leu-156 in the ATPase 6 subunit. " 02/11/2000 - "We investigated the biochemical phenotype of the mtDNA T8993G point mutation in the ATPase 6 gene, associated with neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP), in three patients from two unrelated families. "
3.	DNA (Deoxyribonucleic Acid)IBA 12/09/2017 - "Mitochondrial (mt) DNA-associated NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) syndrome is due to mutation in the MT-ATP6 gene. " 06/01/2015 - "Based on our previous findings that ROS level was higher in human osteosarcoma cybrids--Neuropathy, Ataxia and Retinitis Pigmentosa (NARP) and was reduced by selenite treatment, this study was designed to elucidate the effects of selenite administration on oxidative and nitrosative damage to lipids, proteins and DNA. " 01/01/1994 - "We suggest a possible classification of mitochondrial diseases according to the kind of mt DNA mutations: structural mitochondrial gene mutation as in LHON (Leber's Hereditary Optic Neuropathy) and NARP (Neurogenic muscle weakness, Ataxia and Retinitis Pigmentosa) as well as some cases of Leigh's syndrome; transfer RNA and ribosomal RNA mitochondrial gene mutation as in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Strokelike Episodes) or MERRF (Myoclonic Epilepsy with Ragged Red Fibers) or deafness with aminoglycoside; structural with transfer RNA mitochondrial gene mutations as observed in large-scale deletions or duplications in Kearns-Sayre syndrome, Pearson's syndrome, diabetes mellitus with deafness, and CPEO (Chronic Progressive External Ophtalmoplegia). "
4.	Selenious Acid (Selenite)IBA 08/01/2011 - "These subtle changes in mitochondrial biogenesis in response to selenite treatment support the hypothesis that selenite could be considered as a potential therapeutic agent of NARP syndrome due to its antioxidant properties. " 06/01/2015 - "Based on our previous findings that ROS level was higher in human osteosarcoma cybrids--Neuropathy, Ataxia and Retinitis Pigmentosa (NARP) and was reduced by selenite treatment, this study was designed to elucidate the effects of selenite administration on oxidative and nitrosative damage to lipids, proteins and DNA. "
5.	Proteins (Proteins, Gene)FDA Link 01/01/2009 - "NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein." 06/01/2015 - "Based on our previous findings that ROS level was higher in human osteosarcoma cybrids--Neuropathy, Ataxia and Retinitis Pigmentosa (NARP) and was reduced by selenite treatment, this study was designed to elucidate the effects of selenite administration on oxidative and nitrosative damage to lipids, proteins and DNA. "
6.	Phosphorus (Red Phosphorus)IBA 12/01/1994 - "Phosphorus magnetic resonance spectroscopy (31P-MRS) was used to study in vivo the energy metabolism of brain and skeletal muscle in two members of an Italian pedigree with NARP syndrome due to a point mutation at bp 8993 of mtDNA. "
7.	LipidsIBA 06/01/2015 - "Based on our previous findings that ROS level was higher in human osteosarcoma cybrids--Neuropathy, Ataxia and Retinitis Pigmentosa (NARP) and was reduced by selenite treatment, this study was designed to elucidate the effects of selenite administration on oxidative and nitrosative damage to lipids, proteins and DNA. "
8.	Adenosine Triphosphate (ATP)IBA 12/09/2017 - "A 2 bp deletion in the mitochondrial ATP 6 gene responsible for the NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome." 01/01/2016 - "Neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP) is caused by m.8993T>G/C mutations in the mitochondrial adenosine triphosphate synthase subunit 6 gene (MT-ATP6). " 01/01/2013 - "Here, we show that in the fibroblasts of neuropathy, ataxia and retinitis pigmentosa (NARP) patients, the p66Shc phosphorylation pathway is significantly induced in response to intracellular oxidative stress related to disrupted ATP synthase activity and mitochondrial membrane hyperpolarisation. " 01/01/2011 - "There have been also found mutations in genes encoding subunits of ATP synthase such as 8993T-->G substitution associated with NARP (neuropathy, ataxia and retinitis pigmentosa) syndrome. " 07/19/2011 - "Here we establish a rapid, yeast-based assay to screen for drugs active against human inherited mitochondrial diseases affecting ATP synthase, in particular NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome. "
9.	NucleotidesIBA 01/01/2018 - "Mutations in mitochondrial ATP synthase 6 (MT-ATP6) are a frequent cause of NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) or Leigh syndromes, especially a point mutation at nucleotide position 8993. " 11/01/2012 - "Mutations in mitochondrial DNA (mtDNA) encoded nucleotide 8993 can cause NARP syndrome (neuropathy, ataxia, and retinitis pigmentosa) or MILS (maternally inherited Leigh syndrome). " 09/01/2007 - "Mutations at mitochondrial DNA (mtDNA) nucleotide 8993 can cause neurogenic weakness, ataxia and retinitis pigmentosa (NARP syndrome), or maternally inherited Leigh syndrome (LS), with a correlation between the amount of mutant mtDNA and the severity of the neurological disease. " 04/01/2022 - "In addition to providing evidence for the novel association of a tRNA sequence alteration with NARP syndrome, our observations support the hypothesis that single nucleotide changes can lead to increased occurrence of site-specific mtDNA deletions through the formation of an imperfect repeat. " 03/02/2001 - "A mutation at nucleotide position 8993 of human mitochondrial DNA, located within the gene for ATP synthase subunit 6, is associated with the neurological muscle weakness, ataxia, and retinitis pigmentosa (NARP) syndrome. "
10.	Mitochondrial Proton-Translocating ATPases (Mitochondrial ATP Synthase)IBA 02/25/2013 - "The archetypal NARP syndrome is almost exclusively associated with the m.8993T>C/G mutation in the sixth subunit of the mitochondrial ATP synthase, whereas other mutations in the MT-ATP6 gene primarily associate with Leigh syndrome or Leber's hereditary optic neuropathy (LHON). " 06/01/2010 - "Neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) syndrome is associated with the T8993G transversion in ATP6 gene which results in substitution at the very conservative site in the subunit 6 of mitochondrial ATP synthase. " 01/01/2018 - "Mutations in mitochondrial ATP synthase 6 (MT-ATP6) are a frequent cause of NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) or Leigh syndromes, especially a point mutation at nucleotide position 8993. "

Therapies and Procedures

1.

Lasers (Laser) 03/01/2011 - "We performed detailed neurological, neuropsychological and ophthalmological phenotyping of a mother and four daughters with NARP syndrome from the mtDNA m.8993T>C ATPase 6 mutation, including 3-T brain MRI, spectral domain optical coherence tomography (SD-OCT), adaptive optics scanning laser ophthalmoscopy (AOSLO), electromyography and nerve conduction studies (EMG-NCS) and formal neuropsychological testing. "