Table 2

Clinical, biochemical and molecular description of patients (P1 – P13).

Patient (group)

Phenotype

Biochemical data

Genetic defect

ATPase (% of C)

SDH (% of C)

COX (% of C)

Ref.


P1 (M)

PMR, encephalomyopathy, spastic quadruparesis, microcephalia,

lactate: 1.0–3.4

3 MGA: <15

mt9205ΔTA

*80–120

120–200

80–120

[19]

P2 (M)

transient lactic acidosis, nystagmus, GR

lactate: 3.9–10

mt9205ΔTA

*80–120

80–120

80–120

[20]

P3 (N2)

PMR, HCMP, hypotonia, peripheral neuropathy,

lactate: 1.4–10

3 MGA: 133–281

ncDNA, unknown

<30

120–200

120–200

[21]

P4 (N1)

Fatal lactic acidosis, HCMP

lactate: 30–36

ncDNA, unknown

<30

120–200

80–120

[82]

P5 (N2)

PMR, HCMP, hypotonia, dysmorphy, microcephaly

lactate: 1.6–8

3 MGA: 22–225

ncDNA, unknown

<30

>200

>200

[21]

P6 (N1)

PMR, HCMP, hypotonia, dysmorphy, microcephaly

lactate: 3.6–4.5

3 MGA: 28–260

ncDNA, unknown

<30

>200

>200

NR

P7 (N1)

PMR, HCMP, hypotonia, dysmorphy, microcephaly, epilepsy

lactate: 2.2–6.0

3 MGA: 28–161

ncDNA, unknown

<30

80–120

120–200

NR

P8 (N1)

PMR, hypotonia, dysmorphy, microcephaly

lactate: 3.6–6.7

3 MGA: 56–252

ncDNA, unknown

<30

120–200

>200

NR

P9 (N1)

PMR, hypotonia, dysmorphy, microcephaly

lactate: 2.2–10

3 MGA: 62–150

ncDNA, unknown

<30

>200

>200

[21]

P10 (N1)

PMR, hypotonia, dysmorphy, microcephaly

lactate: 1.4–4.6

3 MGA: 64–270

ncDNA, unknown

<30

120–200

120–200

NR

P11 (N2)

PMR, hypotonia, GR, HCMP dysmorphy, microcephaly

lactate: 1.5–8.2

3 MGA: 34–254

ncDNA, unknown

<10

80–120

80–120

[21]

P12 (N2)

PMR, hypotonia, HCMP

lactate: 2–6.0

3 MGA: 115–460

ncDNA, unknown

<10

80–120

80–120

[25]

P13 (N2)

PMR, GR, microcephaly, mild spasticity, hepatopathy

lactate: 1.2–3.9

3 MGA: 37–132

ncDNA, unknown

<30

120–200

120–200

[21]


Patient assignment to groups is based on DNA sequencing data (M) and results of PCA and hierarchical clustering (N1, N2). PMR – psychomotor retardation, HCMP – hypertrophic cardiomyopathy, GR – growth retardation, lactate – blood lactate (mmol/l), 3 MGA – 3-methylglutaconic aciduria (mg/g creatinine). ATPase (complex V), SDH (complex II) and COX (complex IV) represent enzyme protein content in fibroblast homogenates quantified by SDS PAGE/WB as in [19], using specific primary antibodies (MitoSciences, OR), Alexa Fluor® 680-labeled secondary antibodies and an Odyssey® Infrared Imaging System (LI-COR Biotechnology, Lincoln, NE). Data are presented as % of control values. * Decreased content of subunit a (ATP6). NR means not reported.

Čížková et al. BMC Genomics 2008 9:38   doi:10.1186/1471-2164-9-38

Open Data