International Journal of Diabetes Mellitus
Volume 2, Issue 1 , Page 69, April 2010

Mitochondrial tRNALeu(UUR) gene mutation and maternally inherited diabetes mellitus in Pakistan population

Strategic Center for Diabetes Research (SCDR), University Diabetes Center, King Saud University, Riyadh, Saudi Arabia

Received 12 December 2009; accepted 16 December 2009. published online 20 January 2010.

Article Outline

 

Dear Editor,

I had the chance to read the article published in your journal Vol. 1, Issue 1, dated April 2009, entitled “Mitochondrial tRNALeu(UUR) gene mutation and maternally inherited diabetes mellitus in Pakistan population”, by Naveed et al. [1]. I found this article very interesting, and it could be applicable when looking at gene mutation in maternal inherited diabetes and deafness, in particular, in an identified ethnic group, in this case Pakistani nationals. This ethnic group is known for its high consanguinity rate and prevalence of type 2 diabetes [2].

My concern is directed to Fig. 1, which did not demonstrate the difference between the control and studied cases. It is very difficult to determine the difference between different DNA lanes, and there was no marker directing to change in the figures. Therefore, I found it difficult to decide on the proper size of DNA, and what the authors had concluded from the electropherogram. As mentioned in the result after Apa1 digestion, direct sequencing was undertaken, in the sequence alignment, but it is not stated where position 3243 in the Figs. 1.2–1.4 stands.

Some earlier studies [3], [4], [5] show the same A3243G mutation in different ethnic groups. The problem is whether the author found a similar effect on the Pakistani population, or whether this mutation occurs in all ethnic groups.

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References 

  1. Naveed AK, Wahid M, Naveed A. Mitochondrial tRNALeu(UUR) gene mutation and maternally inherited diabetes mellitus in Pakistan population. Int J Diabetes Mellitus. 2009;1:11–15
  2. Shera AS, Jawad F, Maqsood A. Prevalence of diabetes in Pakistan. Diabetes Res Clin Practice. 2007;76:219–222
  3. Manouvrier S, Rötig A, Hannebique G, Gheerbrandt JD, Royer-Legrain G, Munnich A, et al. Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness. J Med Genet. 1995;32:654–656
  4. Van den Ouweland JM, Lemkes HH, Trembath RC, Ross R, Velho G, Cohen D, et al. Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene. Diabetes. 1994;43:746–751
  5. Smith PR, Bain SC, Good PA, Hattersley AT, Barnett AH, Gibson JM, et al. Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation. Ophthalmology. 1999;106:1101–1108

PII: S1877-5934(09)00064-2

doi:10.1016/j.ijdm.2009.12.007

International Journal of Diabetes Mellitus
Volume 2, Issue 1 , Page 69, April 2010

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