Skip to main content

Advertisement

Table 1 MtDNA and 5TTLPR genotypes, clinical symptoms and medication of MT patients

From: Psychiatric symptoms of patients with primary mitochondrial DNA disorders

ID mtDNA mutation 5HTTLPR genotype Symptoms Medication (with total daily dose)
1 A3243G MELAS L/S Hypoacusis, ataxia, myopathy, endocrine dysfunction -
2 A3243G MELAS L/S Ataxia -
3 A3243G MELAS L/S CPEO, myopathy (mother of Patient 4) -
4 A3243G MELAS L/S CPEO -
5 A8344G MERRF L/L Migraine -
6 A8344G MERRF S/S Mild tremor in the upper limbs (mother of Patient 7 and 8) -
7 A8344G MERRF S/S Myoclonus epilepsy, thrombocytopenia (twin brother of Patient 8) levetiracetam (1000 mg), clonazepam (2 mg), valproate (1500 mg), vinpocetine (20 mg)
8 A8344G MERRF S/S Myoclonus epilepsy, ataxia, cognitive dysfunction, thrombocytopenia (twin brother of Patient 7) levetiracetam (2500 mg), valproate (2100 mg), vinpocetine (90 mg), trimetazidine (40 mg), betaxolol (10 mg), atorvastatine (10 mg), allopurinol (200 mg)
9 T8993G NARP L/S Developmental abnormality of the right arm, hypothyreosis, (mother of Patient 10) -
10 T8993G NARP L/L NARP clonazepam ( 1 mg ) vinpocetine ( 10 mg )
11 mtDNA del L/L CPEO, iron-deficient anemia, hypercholesterolemia -
12 mtDNA del L/S Myalgia, exercise intolerance sertraline (50 mg)
13 mtDNA del L/S Kearns-Sayre syndrome clonazepam ( 1 mg ) vinpocetine ( 20 mg ) mirtazapine ( 30 mg )
14 A 8 3 3 2 G C 8 2 7 0 T L/S Dystonia, early onset stroke-like symptoms levetiracetam ( 1000 mg ) , clonazepam ( 1. 25 mg ) carbamazepine ( 1000 mg )
15 A12770G L/S Ataxia, hypoacusis, spastic paraparesis -
16 A15326G A750G A1438G A8860G A15326G L/L Hypoacusis, limb tremor, myalgia, apraxia ( mother of Patient 1 7 ) trimetazidine ( 6 0 mg ), metformin ( 8 5 0 mg), bisoprolol ( 5 mg ), quetiapine ( 4 0 0 mg ), lamotrigine ( 5 0 mg ), trazodone ( 3 0 0 mg )
17 see Patient 16. L/L - -
18 A3720G G3849A T13020C T13734C A12308G T8473C L/S Severe cardiomyopathy, cognitive dysfunction trimetazidine (40 mg), enalapril (5 mg), molsidomine (4 mg), quetiapine (400 mg), lamotrigine (100 mg), sertraline (100 mg), clonazepam (1.5 mg)
19 C14766T G709A A73G T16126C S/S Peripheral neuropathy tolperisone (300 mg), aceclofenac (200 mg), aripiprazole (15 mg), duloxetine (30 mg), clonazepam (1 mg)
  1. Italics indicate probands (unrelated patients; independent variables) included in the statistical analysis
  2. Abbreviations; mtDNA del deletion of the mtDNA. MELAS mitochondrial encephalopathy, lactic acidosis, stroke-like events; CPEO chronic progressive external ophthalmoplegia; MERRF myoclonic epilepsy with ragged red fibers; NARP neuropathia, ataxia, retinitis pigmentosa. 5HTTLPR: serotonin-transporter-linked polymorphic region; S/S genotype: short-short homozygous; L/L genotype: long-long homozygous; L/S genotype: long-short heterozygous