Springer LINK: Human Genetics - Abstract Volume 105 Issue 1/2 (1999) pp 127-131

Human Genetics

ISSN: 0340-6717 (printed version)
ISSN: 1432-1203 (electronic version)

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Abstract Volume 105 Issue 1/2 (1999) pp 127-131
DOI 10.1007/s004399900062

original investigation: A unique 3.5-kb deletion of the mitochondrial genome in Thai patients with Kearns-Sayre syndrome

P. Lertrit (1), A. Imsumran (1), P. Karnkirawattana (2), V. Devahasdin (3), T. Sangruchi (4), L. Atchaneeyasakul (5), C. Mungkornkarn (1), N. Neungton (1)

(1) Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand e-mail: sipwy@mahidol.ac.th, Fax: +66 2 4111428
(2) Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand
(3) Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand
(4) Department of Pathology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand
(5) Department of Ophthalmology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand

Received: 4 January 1999 / Accepted: 8 April 1999 / Published online: 19 July 1999

Abstract Kearns-Sayre syndrome is one of the neurological diseases caused by a defect in the energy-producing system of mitochondria. Kearns-Sayre is known to be associated with a deletion in the mitochondrial genome and is usually detected in muscle biopsies of the patients. In this study, we report the molecular lesion of mitochondrial DNA (mtDNA) in four Thai patients admitted to hospital with encephalomyopathies. The 3.5-kb deletion of mtDNA was detected by Southern analysis, mapped by amplification with five primer pairs covering almost the total mitochondrial genome, and confirmed by PCR primer shift analysis. The deleted position was localized to nt 10208/13765 or nt 10204/13761 spanning the coding area of subunits 3 (ND3), 4L (ND4L), 4 (ND4), and 5 (ND5) of respiratory chain enzyme complex I and the tRNA genes for histidine, serine, leucine, and arginine. The sequence flanking the deletion was a 4-bp repeat of TCCC. All four patients have exactly the same 3558-bp mtDNA deletion; this is the only deleted position in their mtDNA but is different from those reported in the literature. The deletion seems to be found only in Thai patients, although they present with different clinical manifestations and none of them is not related.

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