Inosine Triphosphate Pyrophosphohydrolase (ITPA) polymorphic sequence variants in adult hematological malignancy patients and possible association with mitochondrial DNA defects

Table 3 Mutation rates in mtDNA genes of AHM patients

mtDNA genes		Patients carrying			Patients homozygous for
	Gene length	ITPA 94A variant allele: mtDNA mutations			ITPA 94C wildtype allele: mtDNA mutations
(rCRS)	(bp)	Mean number	SEM	Frequency	Mean number	SEM	Frequency
D-Loop	1098	2.23	0.48	0.20	1.50	0.50	0.14
MT-RNR1	954	0.38	0.24	0.04	0.00	0.00	0.00
MT-RNR2	1558	0.85	0.25	0.05	0.00	0.00	0.00
MT-ND1	956	0.15	0.10	0.02	0.25	0.25	0.03
MT-ND2	1042	0.46	0.22	0.04	1.50	0.29	0.14
MT-CO1	1542	0.23	0.17	0.01	0.00	0.00	0.00
MT-CO2	684	0.23	0.12	0.03	0.00	0.00	0.00
MT-ATP6	680	0.54	0.22	0.08	0.25	0.25	0.04
MT-CO3	784	0.31	0.17	0.04	0.25	0.25	0.03
MT-TR	65	0.23	0.17	0.35	0.00	0.00	0.00
MT-ND4L	290	0.08	0.08	0.03	0.00	0.00	0.00
MT-ND4	1378	1.00	0.34	0.07	0.00	0.00	0.00
MT-TS2	59	0.08	0.08	0.13	0.00	0.00	0.00
MT-TL2	71	1.15	0.27	1.63	0.00	0.00	0.00
MT-ND5	1812	1.77	0.34	0.10	1.00	0.41	0.06
MT-ND6	525	0.46	0.22	0.09	0.00	0.00	0.00
MT-CYB	1141	1.46	0.43	0.13	0.25	0.25	0.02
MT-TT	66	0.15	0.15	0.23	0.00	0.00	0.00
Total	14705	11.77*	4.05	0.08	5.00	2.20	0.03

The distribution of mutations in mtDNA genes is shown in 13 patients carrying the ITPA 94A variant allele compared with 4 patients homozygous for the ITPA 94C wildtype allele. Results shown as number of mutations per gene (mean and SEM) and frequency (% mutations/base). *p < 0.004, using Two-way ANOVA. Abbreviations of mitochondrial genes according to international notation (http://www.mitomap.org).

ISSN: 1756-8722