In vivo phosphorus magnetic resonance spectroscopy (P-31-MRS) showed defective brain and muscle energy metabolism in three affected siblings in a family with Leber's hereditary optic neuropathy (LHON) with the 11778 mtDNA mutation. We studied 14 nonaffected members of the same pedigree by P-31-MRS and molecular genetics. Nine of 14 individuals studied had the 11778 mtDNA mutation, with various degrees of heteroplasmy. A decreased brain energy reserve, as shown by low phosphocreatine content and phosphorylation potential and high [ADP], was present in eight of these nine subjects with the 11778 mutation. A low rate of postexercise phosphocreatine recovery in muscle was present in six of the nine mutated individuals, Normal MRS findings in the brain of one and the muscle of three carriers were accompanied by a low percentage of mutated mtDNA All subjects without mutation had normal brain and muscle MRS. (31)p-MRS disclosed defective bioenergetics in the brain or muscle or both of all asymptomatic carriers studied from our pedigree.

Defective brain and muscle energy metabolism shown by in vivo 31P-Magnetic Resonance Spectroscopy in non-affected carriers of 11778 mtDNA mutation / B., Barbiroli; P:, Montagna; P., Cortelli; S., Iotti; R., Lodi; P., Barboni; L., Monari; E., Lugaresi; Frassineti, Chiara; P., Zaniol. - In: NEUROLOGY. - ISSN 0028-3878. - STAMPA. - 45:(1995), pp. 1364-1369.

Defective brain and muscle energy metabolism shown by in vivo 31P-Magnetic Resonance Spectroscopy in non-affected carriers of 11778 mtDNA mutation.

FRASSINETI, Chiara;
1995

Abstract

In vivo phosphorus magnetic resonance spectroscopy (P-31-MRS) showed defective brain and muscle energy metabolism in three affected siblings in a family with Leber's hereditary optic neuropathy (LHON) with the 11778 mtDNA mutation. We studied 14 nonaffected members of the same pedigree by P-31-MRS and molecular genetics. Nine of 14 individuals studied had the 11778 mtDNA mutation, with various degrees of heteroplasmy. A decreased brain energy reserve, as shown by low phosphocreatine content and phosphorylation potential and high [ADP], was present in eight of these nine subjects with the 11778 mutation. A low rate of postexercise phosphocreatine recovery in muscle was present in six of the nine mutated individuals, Normal MRS findings in the brain of one and the muscle of three carriers were accompanied by a low percentage of mutated mtDNA All subjects without mutation had normal brain and muscle MRS. (31)p-MRS disclosed defective bioenergetics in the brain or muscle or both of all asymptomatic carriers studied from our pedigree.
45
1364
1369
Defective brain and muscle energy metabolism shown by in vivo 31P-Magnetic Resonance Spectroscopy in non-affected carriers of 11778 mtDNA mutation / B., Barbiroli; P:, Montagna; P., Cortelli; S., Iotti; R., Lodi; P., Barboni; L., Monari; E., Lugaresi; Frassineti, Chiara; P., Zaniol. - In: NEUROLOGY. - ISSN 0028-3878. - STAMPA. - 45:(1995), pp. 1364-1369.
B., Barbiroli; P:, Montagna; P., Cortelli; S., Iotti; R., Lodi; P., Barboni; L., Monari; E., Lugaresi; Frassineti, Chiara; P., Zaniol
File in questo prodotto:
Non ci sono file associati a questo prodotto.
Pubblicazioni consigliate

Caricamento pubblicazioni consigliate

Licenza Creative Commons
I metadati presenti in IRIS UNIMORE sono rilasciati con licenza Creative Commons CC0 1.0 Universal, mentre i file delle pubblicazioni sono rilasciati con licenza Attribuzione 4.0 Internazionale (CC BY 4.0), salvo diversa indicazione.
In caso di violazione di copyright, contattare Supporto Iris

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11380/306693
Citazioni
  • ???jsp.display-item.citation.pmc??? 15
  • Scopus 68
  • ???jsp.display-item.citation.isi??? 62
social impact