We report a new T8306C transition in the D-stem of the MTTK gene of a 67-year-old man who manifested severe adult onset myopathy, myoclonus, leukoencephalopathy, neurosensory hypoacusis, hypertrophic cardiomyopathy and insulin resistance. No other family member was affected, suggesting that our patient was a sporadic case. The T8306C mutation was heteroplasmic in several tissues of the proband, while it was absent from his asymptomatic siblings. Single fibre analysis confirmed the segregation of higher mutational load in cytochrome c oxidase-deficient fibres. The mutation T8306C is predicted to disrupt a highly conserved base pair and was not found in more than 120 controls. This finding broadens the phenotypic and molecular spectrum of mitochondrial tRNA(Lys) associated disorders.

Cardaioli, E., Malfatti, E., Battisti, C., DA POZZO, P., Rubegni, A., Gallus, G.N., et al. (2012). Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation. JOURNAL OF THE NEUROLOGICAL SCIENCES, 321(1-2), 92-95 [10.1016/j.jns.2012.07.027].

Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation.

CARDAIOLI, ELENA;MALFATTI, EDOARDO;BATTISTI, CARLA;DA POZZO, PAOLA;RUBEGNI, ANNA;GALLUS, GIAN NICOLA;MALANDRINI, ALESSANDRO;FEDERICO, ANTONIO
2012-01-01

Abstract

We report a new T8306C transition in the D-stem of the MTTK gene of a 67-year-old man who manifested severe adult onset myopathy, myoclonus, leukoencephalopathy, neurosensory hypoacusis, hypertrophic cardiomyopathy and insulin resistance. No other family member was affected, suggesting that our patient was a sporadic case. The T8306C mutation was heteroplasmic in several tissues of the proband, while it was absent from his asymptomatic siblings. Single fibre analysis confirmed the segregation of higher mutational load in cytochrome c oxidase-deficient fibres. The mutation T8306C is predicted to disrupt a highly conserved base pair and was not found in more than 120 controls. This finding broadens the phenotypic and molecular spectrum of mitochondrial tRNA(Lys) associated disorders.
Cardaioli, E., Malfatti, E., Battisti, C., DA POZZO, P., Rubegni, A., Gallus, G.N., et al. (2012). Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation. JOURNAL OF THE NEUROLOGICAL SCIENCES, 321(1-2), 92-95 [10.1016/j.jns.2012.07.027].
File in questo prodotto:
File Dimensione Formato  
cardaioli 2012.pdf

non disponibili

Tipologia: Pre-print
Licenza: Creative commons
Dimensione 538.97 kB
Formato Adobe PDF
538.97 kB Adobe PDF   Visualizza/Apri   Richiedi una copia

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11365/35512
 Attenzione

Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo