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Neurology 2003;60:1200-1203
© 2003 American Academy of Neurology
Brief Communications

A mitochondrial tRNAHis gene mutation causing pigmentary retinopathy and neurosensorial deafness

M. Crimi, PhD, S. Galbiati, MD, M.P. Perini, MD, A. Bordoni, BS, G. Malferrari, PhD, M. Sciacco, MD, I. Biunno, PhD, S. Strazzer, MD, M. Moggio, MD, N. Bresolin, MD and G.P. Comi, MD

From the Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Università degli Studi di Milano, I.R.C.C.S. Ospedale Maggiore Policlinico and Centro di Eccellenza per le Malattie Neurodegenerative, (Drs. Crimi, Galbiati, Perini, Sciacco, Strazzer, Moggio, Bresolin, and Comi, and A. Bordoni); Istituto Tecnologie Biomediche Avanzate (ITBA)-CNR and Centro Interdisciplinare Studi bio-molecolari e applicazioni Industriali (CISI), (Drs. Malferrari and Biunno) Milano; and I.R.C.C.S. "E. Medea," Bosisio Parini (LC), (Drs. Strazzer and Bresolin), Italy.

Address correspondence and reprint requests to Dr. Marco Crimi, Dipartimento di Scienze Neurologiche, Via F. Sforza 35, 20122 Milano, Italy; e-mail: neurogene{at}policlinico.mi.it

We have identified a heteroplasmic G to A mutation at position 12,183 of the mitochondrial transfer RNA Histidine (tRNAHis) gene in three related patients. These phenotypes varied according to mutation heteroplasmy: one had severe pigmentary retinopathy, neurosensorial deafness, testicular dysfunction, muscle hypotrophy, and ataxia; the other two had only retinal and inner ear involvement. The mutation is in a highly conserved region of the T{psi}C stem of the tRNAHis gene and may alter secondary structure formation. This is the first described pathogenic, maternally inherited mutation of the mitochondrial tRNAHis gene.




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R. W. Taylor, A. M. Schaefer, M. T. McDonnell, R. K.H. Petty, A. M. Thomas, E. L. Blakely, C. M. Hayes, R. McFarland, and D. M. Turnbull
Catastrophic presentation of mitochondrial disease due to a mutation in the tRNAHis gene
Neurology, April 27, 2004; 62(8): 1420 - 1423.
[Abstract] [Full Text] [PDF]


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